Folkhälsan Institute of Genetics

Molecular genetics

Original articles Vineta Fellman
Davoudi M, Kotarsky H, Hansson E, Kallijärvi J, Fellman V. COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation. PLoS One 11: e0168774, 2016
Rajendran J, Tomašić N, Kotarsky H, Hansson E, Velagapudi V, Kallijärvi J, Fellman V. Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency. Int J Mol Sci 17: E1824, 2016
Original articles Juha Kere
Einarsdottir E, Hafrén L, Leinonen E, Bhutta MF, Kentala E, Kere J, Mattila PS. Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion. Sci Rep 6: 33240, 2016
Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12: e1006037, 2016
Jouhilahti EM, Madissoon E, Vesterlund L, Töhönen V, Krjutškov K, Plaza Reyes A, Petropoulos S, Månsson R, Linnarsson S, Bürglin T, Lanner F, Hovatta O, Katayama S, Kere J. The human PRD-like homeobox gene LEUTX has a central role in embryo genome activation. Development 143: 3459-3469, 2016
Jääskeläinen T, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Laivuori H; FINNPEC Study Group. Cohort profile: the Finnish Genetics of Pre-eclampsia Consortium (FINNPEC). BMJ Open 6: e013148, 2016
Kaartokallio T, Cervera A, Kyllönen A, Laivuori K, Kere J, Laivuori H; FINNPEC Core Investigator Group. Corrigendum: Gene expression profiling of pre-eclamptic placentae by RNA sequencing. Sci Rep 6: 17245, 2016
Kaartokallio T, Lokki AI, Peterson H, Kivinen K, Hiltunen L, Salmela E, Lappalainen T, Maanselkä P, Heino S, Knuutila S, Sayed A, Poston L, Brennecke SP, Johnson MP, Morgan L, Moses EK, Kere J, Laivuori H. 27. Preeclampsia does not share common risk alleles in 9p21 with coronary artery disease and type 2 diabetes. Ann Med 48: 330-336, 2016
Kaartokallio T, Wang J, Heinonen S, Kajantie E, Kivinen K, Pouta A, Gerdhem P, Jiao H, Kere J, Laivuori H. Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants. Sci Rep 6: 29085, 2016
Kallela J, Jääskeläinen T, Kortelainen E, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Laivuori H. The diagnosis of pre-eclampsia using two revised classifications in the Finnish Pre-eclampsia Consortium (FINNPEC) cohort. BMC Pregnancy Childbirth 16: 221, 2016
Karppanen T, Kaartokallio T, Klemetti MM, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Staff AC, Laivuori H. An RGS2 3'UTR polymorphism is associated with preeclampsia in overweight women. BMC Genet 17: 121, 2016
Krjutškov K, Katayama S, Saare M, Vera-Rodriguez M, Lubenets D, Samuel K, Laisk-Podar T, Teder H, Einarsdottir E, Salumets A, Kere J. Single-cell transcriptome analysis of endometrial tissue. Hum Reprod 31: 844-853, 2016
Krjutškov K, Koel M, Roost AM, Katayama S, Einarsdottir E, Jouhilahti EM, Söderhäll C, Jaakma Ü, Plaas M, Vesterlund L, Lohi H, Salumets A, Kere J. Globin mRNA reduction for whole-blood transcriptome sequencing. Sci Rep 6: 31584, 2016
Körber I, Katayama S, Einarsdottir E, Krjutškov K, Hakala P, Kere J, Lehesjoki AE, Joensuu T. Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia. PLoS One 11: e0158195., 2016
Madissoon E, Jouhilahti EM, Vesterlund L, Töhönen V, Krjutškov K, Petropoulous S, Einarsdottir E, Linnarsson S, Lanner F, Månsson R, Hovatta O, Bürglin TR, Katayama S, Kere J. Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos. Sci Rep 6: 28995, 2016
Massinen S, Wang J, Laivuori K, Bieder A, Tapia Paez I, Jiao H, Kere J. Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1.
J Neurodev Disord 8: 4, 2016
Matsson H, Söderhäll C, Einarsdottir E, Lamontagne M, Gudmundsson S, Backman H, Lindberg A, Rönmark E, Kere J, Sin D, Postma DS, Bossé Y, Lundbäck B, Klar J. Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease. BMC Pulm Med 16: 146, 2016
Salmela E, Renvall H, Kujala J, Hakosalo O, Illman M, Vihla M, Leinonen E, Salmelin R, Kere J. Evidence for genetic regulation of the human parieto-occipital 10-Hz rhythmic activity. Eur J Neurosci 44: 1963-1971, 2016
Tammimies K, Bieder A, Lauter G, Sugiaman-Trapman D, Torchet R, Hokkanen ME, Burghoorn J, Castrén E, Kere J, Tapia-Páez I, Swoboda P. Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs. FASEB J 30: 3578-3587, 2016
Tervaniemi MH, Katayama S, Skoog T, Siitonen HA, Vuola J, Nuutila K, Sormunen R, Johnsson A, Linnarsson S, Suomela S, Kankuri E, Kere J, Elomaa O. NOD-like receptor signaling and inflammasome-related pathways are highlighted in psoriatic epidermis. Sci Rep 6: 22745, 2016
Wang J, Skoog T, Einarsdottir E, Kaartokallio T, Laivuori H, Grauers A, Gerdhem P, Hytönen M, Lohi H, Kere J, Jiao H. Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples. Sci Rep 6: 33256, 2016
Wang J, Vesterlund L, Kere J, Jiao H. Identification of Novel Transcribed Regions in Zebrafish (Danio rerio) Using RNA-Sequencing. PLoS One 11: e0160197, 2016
Original articles Anna-Elina Lehesjoki
de Kovel C, Brilstra EH, van Kempen M, van't Slot R, Nijman I, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki A-E, Lemke J, Marini C, Mei D, Møller R, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S, EuroEPINOMICS RES Consortium, Koeleman BP. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Mol Genet Genomic Med 4: 568-580, 2016
Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen A-K, Brilstra E, Caglayan HS, de Kovel CGF, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki A-E, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Striano P, van Kempen MJA, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, Stephani U, De Jonghe P, Helbig I, Suls A, EuroEPINOMICS-RES Dravet working group. Pitfalls in genetic testing: the story of missed SCN1A mutations. Mol Genet Genomic Med 4: 457-464, 2016
Gaily E, Lommi M, Lapatto R, Lehesjoki A-E. Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study. Epilepsia 57: 1594-1601, 2016
Helbig KL, Hedrich UBS, Shinde DN, Krey I, Teichmann A-C, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu H-M, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki A-E, Helbig I, Lerche H, Lemke JR. A recurrent KCNA2 mutation causes hereditary spastic paraplegia and ataxia. Ann Neurol 80: 638-642, 2016
Kettunen KM, Karikoski R, Hämäläinen RH, Toivonen TT, Antonenkov VD, Kulesskaya N, Voikar V, Hölttä-Vuori M, Ikonen E, Sainio K, Jalanko A, Karlberg S, Karlberg N, Lipsanen-Nyman M, Toppari J, Jauhiainen M, Hiltunen JK, Jalanko H, Lehesjoki A-E. Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism. Biol Open 5: 584-595, 2016
Körber I, Katayama S, Einarsdottir E, Krjutškov K, Hakala P, Kere J, Lehesjoki A-E, Joensuu T. Gene-expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia. PLoS One 11: e0158195, 2016
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Evaluation of presumably diseases causing SCN1A variants in a cohort of common epilepsy syndromes. PLoS One 11: e0150426, 2016
Muona M, Fukata Y, Anttonen A-K, Laari A, Palotie A, Pihko H, Lönnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki A-E. Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy. Neurol Genet 2: e46, 2016
Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, Anttonen A-K,14, Tanaka K, Palotie A, Waguri S, Lehesjoki A-E, Komatsu M. Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier to severe infantile-onset encephalopathy. Am J Hum Genet 99: 683-694, 2016
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Stefanie Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mikhail M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Wechuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S, EuroEPINOMICS-RES MAE working group, Lemke J, Héron D, Kluger G, Depienne C. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual deficiency and epilepsy. J Med Genet 53: 511-522, 2016
Mäkitie RE, Haanpää M, Valta H, Pekkinen M, Laine CM, Lehesjoki A-E, Schalin-Jäntti C, Mäkitie O. Skeletal characteristics of WNT1 osteoporosis in children and young adults. J Bone Mineral Res 31: 1734-1742, 2016
Nascimento FA, Aljaafari D, Muona M, Lehesjoki A-E, Berkovic S, Franceschetti S, Canafoglia L, Andrade D. Progressive Myoclonus Epilepsy phenotype in SACS gene mutations. Neurol Genet 2: e83, 2016
Okuneva O, Li Z, Körber I, Tegelberg S, Joensuu T, Tian L, Lehesjoki A-E. Brain inflammation is accompanied by peripheral inflammation in Cstb-/- mice, a model for progressive myoclonus epilepsy. J Neuroinflammation 13: 296, 2016
Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki A-E, Neubauer BA, Lerche H, Hedrich UBS. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol 263: 334-343, 2016
Turunen JA, Markkinen S, Wilska R, Saarinen S, Raivio V, Täll M, Lehesjoki A-E, Kivelä TT. BAP1 germline mutations in Finnish patients with uveal melanoma. Ophthalmology 123: 1112-1117, 2016
Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin A-L, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki A-E, Piirilä P, Kiuru-Enari S. Decreased aerobic capacity in ANO5-muscular dystrophy. J Neuromuscul Dis 3: 475-485, 2016
Original articles Hannes Lohi
Donner J, Kaukonen M, Anderson H, Möller F, Kyöstilä K, Sankari S, Hytönen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11: e0161005, 2016
Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12: e1006037, 2016
Hytönen MK, Lohi H. Canine models of human rare disorders. Rare Dis 4: e1241362, 2016
Höglund K, Lequarré AS, Ljungvall I, Mc Entee K, Merveille AC, Wiberg M, Gouni V, Lundgren Willesen J, Hanås S, Wess G, Mejer Sørensen L, Tiret L, Kierczak M, Forsberg SK, Seppälä E, Lindblad-Toh K, Lohi H, Chetboul V, Fredholm M, Häggström J. Effect of Breed on Plasma Endothelin-1 Concentration, Plasma Renin Activity, and Serum Cortisol Concentration in Healthy Dogs. J Vet Intern Med 30: 566-573, 2016
Krjutškov K, Koel M, Roost AM, Katayama S, Einarsdottir E, Jouhilahti EM, Söderhäll C, Jaakma Ü, Plaas M, Vesterlund L, Lohi H, Salumets A, Kere J. Globin mRNA reduction for whole-blood transcriptome sequencing. Sci Rep 6: 31584, 2016
Niskanen AK, Kennedy LJ, Lohi H, Aspi J, Pyhäjärvi T. No evidence of prenatal diversifying selection at locus or supertype levels in the dog MHC class II loci. Canine Genet Epidemiol 3: 9, 2016
Pausch H, Venhoranta H, Wurmser C, Hakala K, Iso-Touru T, Sironen A, Vingborg RK, Lohi H, Söderquist L, Fries R, Andersson M. A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle. BMC Genet 17: 49, 2016
Puurunen J, Sulkama S, Tiira K, Araujo C, Lehtonen M, Hanhineva K, Lohi H. A non-targeted metabolite profiling pilot study suggests that tryptophan and lipid metabolisms are linked with ADHD-like behaviours in dogs. Behav Brain Funct 12: 27, 2016
Puurunen J, Tiira K, Lehtonen M, Hanhineva K, Lohi H. Non-targeted metabolite profiling reveals changes in oxidative stress, tryptophan and lipid metabolisms in fearful dog Behav Brain Funct 12: 7, 2016
van Steenbeek FG, Hytönen MK, Leegwater PA, Lohi H. The canine era: the rise of a biomedical model. Anim Genet 47: 519-527, 2016
Vapalahti K, Virtala AM, Joensuu TA, Tiira K, Tähtinen J, Lohi H. Health and Behavioral Survey of over 8000 Finnish Cats. Front Vet Sci 3: 70, 2016
Wang J, Skoog T, Einarsdottir E, Kaartokallio T, Laivuori H, Grauers A, Gerdhem P, Hytönen M, Lohi H, Kere J, Jiao H. Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples. Sci Rep 6: 33256, 2016
Wang GD, Zhai W, Yang HC, Wang L, Zhong L, Liu YH, Fan RX, Yin TT, Zhu CL, Poyarkov AD, Irwin DM, Hytönen MK, Lohi H, Wu CI, Savolainen P, Zhang YP. Out of southern East Asia: the natural history of domestic dogs across the world. Cell Res 26: 21-33, 2016
Wu W, Patel A, Kyöstilä K, Lohi H, Mladkova N, Kiryluk K, Sun X, Lefkowitch JH, Worman HJ, Gharavi AG. Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids. Hepatology 63: 1943-1956, 2016
Original articles Outi Mäkitie
Costantini A, Mäkitie O. Value of rare low bone mass diseases for osteoporosis genetics. Bonekey Rep 5: 773, 2016 (Review)
Holmlund-Suila E, Pekkinen M, Ivaska KK, Andersson S, Mäkitie O, Viljakainen H. Obese young adults exhibit lower total and lower free serum 25-hydroxycholecalciferol in a randomized vitamin D intervention. Clin Endocrinol (Oxf) 85: 378-385, 2016
Mäkitie RE, Haanpää M, Valta H, Pekkinen M, Laine CM, Lehesjoki AE, Schalin-Jäntti C, Mäkitie O. Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults. J Bone Miner Res 31: 1734-1742, 2016
Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O. Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. J Bone Miner Res 31: 1577-1585, 2016
Tenhola S, Voutilainen R, Reyes M, Toiviainen-Salo S, Jüppner H, Mäkitie O. Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation. Eur J Endocrinol 175: 211-218, 2016
Original articles Bjarne Udd
Alvarez VC, Penttilä ST, Salutto VL, Udd B, Mazia CG. Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. Neurol Genet 2: e109, 2016
Evilä A, Arumilli M, Udd B, Hackman P. Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscul Disord 26: 7-15, 2016
Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee KY, Swanson MS, Lopez de Munain A, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N. Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. Nat Commun 7: 11067, 2016
Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, Yiannikas C, North K, Clarke N, MacArthur DG, Sue CM, Udd B. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology 86: 391-398, 2016
Jokela M, Huovinen S, Raheem O, Lindfors M, Palmio J, Penttilä S, Udd B. Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders. PLoS One 11: e0151376, 2016
Palmio J, Evilä A, Bashir A, Norwood F, Viitaniemi K, Vihola A, Huovinen S, Straub V, Hackman P, Hirano M, Bushby K, Udd B. Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family. J Neurol Neurosurg Psychiatry 87: 448-450, 2016
Palmio J, Kärppä M, Baumann P, Penttilä S, Moilanen J, Udd B. Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family. Clin Case Rep 4: 1151-1156, 2016
Palmio J, Udd B. Myofibrillar and distal myopathies. Rev Neurol (Paris) 172: 587-593, 2016 (Review)
Papadimas GK, Evilä A, Papadopoulos C, Kararizou E, Manta P, Udd B. GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology. J Neuromuscul Dis 3: 283-288, 2016
Rudolf G, Suominen T, Penttilä S, Hackman P, Evilä A, Lannes B, Echaniz-Laguna A, Bierry G, Tranchant C, Udd B. Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. J Neuromuscul Dis 3: 275-281, 2016
Sandell S, Huovinen S, Palmio J, Raheem O, Lindfors M, Zhao F, Haapasalo H, Udd B. Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D. Acta Neuropathol Commun 4: 9, 2016
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sanpaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. Neurology 87: 71-76, 2016
Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis 3: 293-308, 2016
Tasca G, Fattori F, Monforte M, Hedberg-Oldfors C, Sabatelli M, Udd B, Boldrini R, Bertini E, Ricci E, Oldfors A. Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods. J Neurol 263: 2133-2135, 2016
Original articles Carina Wallgren-Pettersson, Katarina Pelin
Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K. A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. Eur J Hum Genet 24: 574-580, 2016
Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA. Mutation-specific effects on thin filament length in thin filament myopathy. Ann Neurol 79: 959-969, 2016
Original articles Maija Wessman
Cajanus K, Holmström EJ, Wessman M, Anttila V, Kaunisto MA, Kalso E. Effect of endocannabinoid degradation on pain: role of FAAH polymorphisms in experimental and postoperative pain in women treated for breast cancer. Pain 157: 361-369, 2016
de Vries B, Anttila V, Freilinger T, Wessman M, Kaunisto MA, Kallela M, Artto V, Vijfhuizen LS, Göbel H, Dichgans M, Kubisch C, Ferrari MD, Palotie A, Terwindt GM, van den Maagdenberg AM; International Headache Genetics Consortium. Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set. Cephalalgia 36: 604-614, 2016
Gormley P, Anttila V, Winsvold BS, Palta P, Esko T, Pers TH,
Wessman M et al. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nat Genet 48: 856-866, 2016
Laurell K, Artto V, Bendtsen L, Hagen K, Häggström J, Linde M, Söderström L, Tronvik E, Wessman M, Zwart JA, Kallela M. Premonitory symptoms in migraine: A cross-sectional study in 2714 persons. Cephalalgia 36: 951-959, 2016
Zhao H, Eising E, de Vries B, Vijfhuizen LS; International Headache Genetics Consortium., Anttila V, Winsvold BS, Kurth T, Stefansson H, Kallela M, Malik R, Stam AH, Ikram MA, Ligthart L, Freilinger T, Alexander M, Müller-Myhsok B, Schreiber S, Meitinger T, Aromas A, Eriksson JG, Boomsma DI, van Duijn CM, Zwart JA, Quaye L, Kubisch C, Dichgans M, Wessman M, Stefansson K, Chasman DI, Palotie A, Martin NG, Montgomery GW, Ferrari MD, Terwindt GM, van den Maagdenberg AM, Nyholt DR. Gene-based pleiotropy across migraine with aura and migraine without aura patient groups. Cephalalgia 36: 648-57, 2016

Genetic epidemiology

Original articles Elisabete Weiderpass
69 articles not related with the FinHit Project / Genetic Epidemiology Project /without the Folkhälsan Research Center affiliation
Määttä S, Nuutinen T, Ray C, Eriksson JG, Weiderpass E, Roos E. Validity of self-reported out-of-school physical activity among Finnish 11-year-old children. Arch Public Health 74: 11, 2016
Rounge TB, Page CM, Lepistö M, Ellonen P, Andreassen BK, Weiderpass E. Genome-wide DNA methylation in saliva and body size of adolescent girls. Epigenomics 8: 1495-1505, 2016
Sarkkola C, Rounge TB, Simola-Ström S, von Kraemer S, Roos E, Weiderpass E. Validity of home-measured height, weight and waist circumference among adolescents. Eur J Public Health 26: 975-977, 2016

Diabetes Genetics

Original articles Per-Henrik Groop
Ahola A, Saraheimo M, Freese R, Mikkilä V, Mäkimattila S, Forsblom C, Groop P-H, on behalf of the FinnDiane Study Group. Ahola A, Saraheimo M, Freese R, Mikkilä V, Mäkimattila S, Forsblom C, Groop P-H, on behalf of the FinnDiane Study Group. Fear of hypoglycaemia and self-management in type 1 diabetes. J Clin Trans Endocrinol 4: 13-18, 2016
Ahola AJ, Freese R, Mäkimattila S, Forsblom C, Groop PH; FinnDiane Study Group. Dietary patterns are associated with various vascular health markers and complications in type 1 diabetes. J Diabetes Complications 30: 1144-50, 2016
Berglund LM, Lyssenko V, Ladenvall C, Kotova O, Edsfeldt A, Pilgaard K, Alkayyali S, Brøns C, Forsblom C, Jonsson A, Zetterqvist AV, Nitulescu M, McDavitt CR, Dunér P, Stancáková A, Kuusisto J, Ahlqvist E, Lajer M, Tarnow L, Madsbad S, Rossing P, Kieffer TJ, Melander O, Orho-Melander M, Nilsson P, Groop PH, Vaag A, Lindblad B, Gottsäter A, Laakso M, Goncalves I, Groop L, Gomez MF. Glucose-dependent insulinotropic polypeptide (GIP) stimulates osteopontin expression in the vasculature via endothelin-1 and CREB. Diabetes 65: 239-54, 2016
Chen W, Laiho S, Vaittinen O, Halonen L, Ortiz F, Forsblom C, Groop PH, Lehto M, Metsälä M. Biochemical pathways of breath ammonia (NH3) generation in patients with end-stage renal disease undergoing hemodialysis. J Breath Res 10: 036011, 2016
Chen W, Roslund K, Fogarty CL, Pussinen PJ, Halonen L, Groop PH, Metsälä M, Lehto M. Detection of hydrogen cyanide from oral anaerobes by cavity ring down spectroscopy. Sci Rep 6: 22577, 2016
Cherney D, Lund SS, Perkins BA, Groop PH, Cooper ME, Kaspers S, Pfarr E, Woerle HJ, von Eynatten M. The effect of sodium glucose cotransporter 2 inhibition with empagliflozin on microalbuminuria and macroalbuminuria in patients with type 2 diabetes. Diabetologia 59: 1860-1870, 2016
Esposito P, Mereu R, De Barbieri G, Rampino T, Di Toro A, Groop PH, Dal Canton A, Bernardi L. Trained breathing-induced oxygenation acutely reverses cardiovascular autonomic dysfunction in patients with type 2 diabetes and renal disease. Acta Diabetol 53: 217-226, 2016
Feodoroff M, Harjutsalo V, Forsblom C, Sandholm N, Groop PH; FinnDiane Study Group. The impact of smoking on the effect of the rs4972593 genetic variant on end-stage renal disease. Diabet Med 33: 1301-1303, 2016
Feodoroff M, Harjutsalo V, Forsblom C, Thorn L, Wadén J, Tolonen N, Lithovius R, Groop PH. Smoking and progression of diabetic nephropathy in patients with type 1 diabetes. Acta Diabetol 53: 525-533, 2016
Gordin D, Bernardi L, Rosengård-Bärlund M, Mäkinen VP, Soro-Paavonen A, Forsblom C, Sandelin A, Groop PH. Oxygen deteriorates arterial function in type 1 diabetes. Acta Diabetol 53: 349-357, 2016
Gordin D, Groop PH. Aspects of Hyperglycemia Contribution to Arterial Stiffness and Cardiovascular Complications in Patients With Type 1 Diabetes. J Diabetes Sci Technol 10: 1059-1064, 2016 (Review)
Gordin D, Saraheimo M, Tuomikangas J, Soro-Paavonen A, Forsblom C, Paavonen K, Steckel-Hamann B, Vandenhende F, Nicolaou L, Pavo I, Koivisto V, Groop PH. Influence of Postprandial Hyperglycemic Conditions on Arterial Stiffness in Patients With Type 2 Diabetes. J Clin Endocrinol Metab 101: 1134-1143, 2016
Harjutsalo V, Maric-Bilkan C, Forsblom C, Groop PH; FinnDiane Study Group. Age at menarche and the risk of diabetic microvascular complications in patients with type 1 diabetes. Diabetologia 59: 472-480, 2016
Lassenius MI, Ahola AJ, Harjutsalo V, Forsblom C, Groop PH, Lehto M. Endotoxins are associated with visceral fat mass in type 1 diabetes. Sci Rep 6: 38887, 2016
Ottosson-Laakso E, Tuomi T, Forsén B, Gullström M, Groop PH, Groop L, Vikman P. Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time. PLoS One 11: e0146114, 2016
Pedigo CE, Ducasa GM, Leclercq F, Sloan A, Mitrofanova A, Hashmi T, Molina-David J, Ge M, Lassenius MI, Forsblom C, Lehto M, Groop PH, Kretzler M, Eddy S, Martini S, Reich H, Wahl P, Ghiggeri G, Faul C, Burke GW 3rd, Kretz O, Huber TB, Mendez AJ, Merscher S, Fornoni A. 13. Local TNF causes NFATc1-dependent cholesterol-mediated podocyte injury. J Clin Invest 126: 3336-3350, 2016
Perkovic V, Agarwal R, Fioretto P, Hemmelgarn BR, Levin A, Thomas MC, Wanner C, Kasiske BL, Wheeler DC, Groop PH; Conference Participants. Management of patients with diabetes and CKD: Report from a “Kidney Disease, Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney Int 90: 1175-1183, 2016
Porta M, Toppila I, Sandholm N, Hosseini SM, Forsblom C, Hietala K, Borio L, Harjutsalo V, Klein BE, Klein R, Paterson AD; DCCT/EDIC Research Group., Groop PH; FinnDiane Study Group. Variation in SLC19A3 and protection from microvascular damage in type 1 diabetes. Diabetes 5: 1022-1030, 2016
Sanahuja J, Alonso N, Diez J, Ortega E, Rubinat E, Traveset A, Alcubierre N, Betriu À, Castelblanco E, Hernández M, Purroy F, Arcidiacono MV, Jurjo C, Fernández E, Puig-Domingo M, Groop PH, Mauricio D. Increased Burden of Cerebral Small Vessel Disease in Patients With Type 2 Diabetes and Retinopathy. Diabetes Care 39: 1614-1620, 2016
Sas KM, Kayampilly P, Byun J, Nair V, Hinder LM, Hur J, Zhang H, Lin C, Qi NR, Michailidis G, Groop PH, Nelson RG, Darshi M, Sharma K, Schelling JR, Sedor JR, Pop-Busui R, Weinberg JM, Soleimanpour SA, Abcouwer SF, Gardner TW, Burant CF, Feldman EL, Kretzler M, Brosius FC 3rd, Pennathur S. Tissue-specific metabolic reprogramming drives nutrient flux in diabetic complications. JCI Insight 1: e86976, 2016
Saurus P, Kuusela S, Dumont V, Lehtonen E, Fogarty CL, Lassenius MI, Forsblom C, Lehto M, Saleem MA, Groop PH, Lehtonen S. Cyclin-dependent kinase 2 protects podocytes from apoptosis. Sci Rep 6: 21664, 2016
Thomas MC, Paldánius PM, Ayyagari R, Ong SH, Groop PH. Systematic Literature Review of DPP-4 Inhibitors in Patients with Type 2 Diabetes Mellitus and Renal Impairment. Diabetes Ther 7: 439-454, 2016 (Review)
Zonszein J, Groop PH. Strategies for Diabetes Management: Using Newer Oral Combination Therapies Early in the Disease. Diabetes Ther 7: 621-639, 2016 (Review)
Original articles Tiinamaija Tuomi
Bacos K, Gillberg L, Volkov P, Olsson AH, Hansen T, Pedersen O, Gjesing AP, Eiberg H, Tuomi T, Almgren P, Groop L, Eliasson L, Vaag A, Dayeh T, Ling C. Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes. Nat Commun 7: 11089, 2016
Dayeh T, Tuomi T, Almgren P, Perfilyev A, Jansson PA, de Mello VD, Pihlajamäki J, Vaag A, Groop L, Nilsson E, Ling C. DNA methylation of loci within ABCG1 and PHOSPHO1 in blood DNA is associated with future type 2 diabetes risk. Epigenetics 11: 482-488, 2016
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Tuomi T et al. The genetic architecture of type 2 diabetes. Nature 536: 41-47, 2016
Ottosson-Laakso E, Tuomi T, Forsén B, Gullström M, Groop PH, Groop L, Vikman P. Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time. PLoS One 11: e0146114, 2016
Prasad RB, Lessmark A, Almgren P, Kovacs G, Hansson O, Oskolkov N, Vitai M, Ladenvall C, Kovacs P, Fadista J, Lachmann M, Zhou Y, Sonestedt E, Poon W, Wollheim CB, Orho-Melander M, Stumvoll M, Tuomi T, Pääbo S, Koranyi L, Groop L. Excess maternal transmission of variants in the THADA gene to offspring with type 2 diabetes. Diabetologia 59: 1702-1713, 2016
Rasouli B, Andersson T, Carlsson PO, Grill V, Groop L, Martinell M, Storm P, Tuomi T, Carlsson S. Smoking and the Risk of LADA: Results From a Swedish Population-Based Case-Control Study. Diabetes Care 39: 794-800, 2016
Surendran P, Drenos F, Young R, Warren H, Cook JP, Manning AK, Tuomi T et al. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Nat Genet 48: 1151-1161, 2016
Tuomi T, Nagorny CL, Singh P, Bennet H, Yu Q, Alenkvist I, Isomaa B, Östman B, Söderström J, Pesonen AK, Martikainen S, Räikkönen K, Forsén T, Hakaste L, Almgren P, Storm P, Asplund O, Shcherbina L, Fex M, Fadista J, Tengholm A, Wierup N, Groop L, Mulder H. 11. Increased Melatonin Signaling Is a Risk Factor for Type 2 Diabetes. Cell Metab 23: 1067-1077, 2016
Other publications Tiinamaija Tuomi
Laakso M, Groop L, Isomaa B, Honkasalo M, Juselius P, Lindström J, Meinander T, Nuutinen H, Saltevo J, Syvänne M, Tuomi T. [Update on Current Care Guideline. Diabetes]. Duodecim 132: 881-882, 2016
Original articles Mikael Knip
Galli E, Härkönen T, Sainio MT, Ustav M, Toots U, Urtti A, Yliperttula M, Lindahl M, Knip M, Saarma M, Lindholm P. Increased circulating concentrations of mesencephalic astrocyte-derived neurotrophic factor in children with type 1 diabetes. Sci Rep 6: 29058, 2016
Helminen O, Pokka T, Tossavainen P, Ilonen J, Knip M, Veijola R. Continuous glucose monitoring and HbA1c in the evaluation of glucose metabolism in children at high risk for type 1 diabetes mellitus. Diabetes Res Clin Pract 120: 89-96, 2016
Ilonen J, Kiviniemi M, Lempainen J, Simell O, Toppari J, Veijola R, Knip M; Finnish Pediatric Diabetes Register. Genetic susceptibility to type 1 diabetes in childhood - estimation of HLA class II associated disease risk and class II effect in various phases of islet autoimmunity. Pediatr Diabetes 17: 8-16, 2016
Knip M, Siljander H, Ilonen J, Simell O, Veijola R. Role of humoral beta-cell autoimmunity in type 1 diabetes. Pediatr Diabetes 17:17-24, 2016
Seppälä E, Sillanpää S, Nurminen N, Huhtala H, Toppari J, Ilonen J, Veijola R, Knip M, Sipilä M, Laranne J, Oikarinen S, Hyöty H. Human enterovirus and rhinovirus infections are associated with otitis media in a prospective birth cohort study..J Clin Virol 85: 1-6, 2016
Simre K, Uibo O, Peet A, Tillmann V, Kool P, Hämäläinen AM, Härkönen T, Siljander H, Virtanen S, Ilonen J, Knip M, Uibo R; DIABIMMUNE Study Group.
Exploring the risk factors for differences in the cumulative incidence of coeliac disease in two neighboring countries: the prospective DIABIMMUNE study. Dig Liver Dis 48: 1296-1301, 2016
Yassour M, Vatanen T, Siljander H, Hämäläinen AM, Härkönen T, Ryhänen SJ, Franzosa EA, Vlamakis H, Huttenhower C, Gevers D, Lander ES, Knip M; DIABIMMUNE Study Group, Xavier RJ. Natural history of the infant gut microbiome and impact of antibiotic treatment on bacterial strain diversity and stability. Sci Transl Med 8: 343ra81, 2016

Preventive Medicine Research Program

Original articles Matti J Tikkanen
Paatela H, Wang F, Vihma V, Savolainen-Peltonen H, Mikkola TS, Turpeinen U, Hämäläinen E, Jauhiainen M, Tikkanen MJ. Steroid sulfatase activity in subcutaneous and visceral adipose tissue: a comparison between pre- and postmenopausal women. Eur J Endocrinol 174: 167-175, 2016
Vihma V, Tikkanen MJ, Hämäläinen E. Response to the comments by Per E. Lønning. J Steroid Biochem Mol Biol 159: 70-71, 2016
Vihma V, Wang F, Savolainen-Peltonen H, Turpeinen U, Hämäläinen E, Leidenius M, Mikkola TS, Tikkanen MJ. Quantitative determination of estrone by liquid chromatography-tandem mass spectrometry in subcutaneous adipose tissue from the breast in postmenopausal women. J Steroid Biochem Mol Biol 155(Pt A): 120-125, 2016
Original articles Tomi S Mikkola
Altman D, Mikkola TS, Bek KM, Rahkola-Soisalo P, Gunnarsson J, Engh ME, Falconer C; Nordic TVM group. Pelvic organ prolapse repair using the Uphold™ Vaginal Support System: a 1-year multicenter study. Int Urogynecol J 27: 1337-1345, 2016
Korhonen KV, Savolainen-Peltonen HM, Mikkola TS, Tiitinen AE, Unkila-Kallio LS. C-reactive protein response is higher in early than in late ovarian hyperstimulation syndrome. Eur J Obstet Gynecol Reprod Biol 207: 162-168, 2016
Mikkola TS, Savolainen-Peltonen H, Tuomikoski P, Hoti F, Vattulainen P, Gissler M, Ylikorkala O. Reduced risk of breast cancer mortality in women using postmenopausal hormone therapy: a Finnish nationwide comparative study. Menopause 23: 1199-1203, 2016
Mikkola TS, Tuomikoski P, Lyytinen H, Korhonen P, Hoti F, Vattulainen P, Gissler M, Ylikorkala O. Vaginal estradiol use and the risk for cardiovascular mortality.
Hum Reprod 31: 804-809, 2016
Savolainen-Peltonen H, Tuomikoski P, Korhonen P, Hoti F, Vattulainen P, Gissler M, Ylikorkala O, Mikkola TS. Cardiac Death Risk in Relation to the Age at Initiation or the Progestin Component of Hormone Therapies. J Clin Endocrinol Metab 101: 2794-801, 2016
Tuomikoski P, Salomaa V, Havulinna A, Airaksinen J, Ketonen M, Koukkunen H, Ukkola O, Kesäniemi YA, Lyytinen H, Ylikorkala O, Mikkola TS. Decreased mortality risk due to first acute coronary syndrome in women with postmenopausal hormone therapy use. Maturitas 94: 106-109, 2016

Public Health Research Program

Original articles Johan G Eriksson
Barban N, Jansen R, de Vlaming R, Vaez A, Mandemakers JJ, Tropf FC, Eriksson JG et al. Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nat Genet 48: 1462-1472, 2016
Bucci M, Huovinen V, Guzzardi MA, Koskinen S, Raiko JR, Lipponen H, Ahsan S, Badeau RM, Honka MJ, Koffert J, Savisto N, Salonen MK, Andersson J, Kullberg J, Sandboge S, Iozzo P, Eriksson JG, Nuutila P. Resistance training improves skeletal muscle insulin sensitivity in elderly offspring of overweight and obese mothers. Diabetologia 59: 77-86, 2016
de Vries PS, Chasman DI, Sabater-Lleal M, Chen MH, Huffman JE, Steri M, Tang W, Teumer A, Marioni RE, Grossmann V, Hottenga JJ, Trompet S, Müller-Nurasyid M, Zhao JH, Brody JA, Kleber ME, Guo X, Wang JJ, Auer PL, Attia JR, Yanek LR, Ahluwalia TS, Lahti J, Venturini C, Tanaka T, Bielak LF, Joshi PK, Rocanin-Arjo A, Kolcic I, Navarro P, Rose LM, Oldmeadow C, Riess H, Mazur J, Basu S, Goel A, Yang Q, Ghanbari M, Willemsen G, Rumley A, Fiorillo E, de Craen AJ, Grotevendt A, Scott R, Taylor KD, Delgado GE, Yao J, Kifley A, Kooperberg C, Qayyum R, Lopez LM, Berentzen TL, Räikkönen K, Mangino M, Bandinelli S, Peyser PA, Wild S, Trégouët DA, Wright AF, Marten J, Zemunik T, Morrison AC, Sennblad B, Tofler G, de Maat MP, de Geus EJ, Lowe GD, Zoledziewska M, Sattar N, Binder H, Völker U, Waldenberger M, Khaw KT, Mcknight B, Huang J, Jenny NS, Holliday EG, Qi L, Mcevoy MG, Becker DM, Starr JM, Sarin AP, Hysi PG, Hernandez DG, Jhun MA, Campbell H, Hamsten A, Rivadeneira F, Mcardle WL, Slagboom PE, Zeller T, Koenig W, Psaty BM, Haritunians T, Liu J, Palotie A, Uitterlinden AG, Stott DJ, Hofman A, Franco OH, Polasek O, Rudan I, Morange PE, Wilson JF, Kardia SL, Ferrucci L, Spector TD, Eriksson JG, Hansen T, Deary IJ, Becker LC, Scott RJ, Mitchell P, März W, Wareham NJ, Peters A, Greinacher A, Wild PS, Jukema JW, Boomsma DI, Hayward C, Cucca F, Tracy R, Watkins H, Reiner AP, Folsom AR, Ridker PM, O'Donnell CJ, Smith NL, Strachan DP, Dehghan A. meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. Hum Mol Genet 25: 358-370, 2016
Eriksson JG. Developmental Origins of Health and Disease - from a small body size at birth to epigenetics. Ann Med 48: 456-467, 2016
Eriksson JG, Kajantie E, Thornburg K, Osmond C. Prenatal and maternal characteristics and later risk for coronary heart disease among women.
Eur J Prev Cardiol 23: 385-390, 2016
Eriksson JG, Venojärvi M, Osmond C. Prenatal and Childhood Growth, Chemerin Concentrations, and Metabolic Health in Adult Life. Int J Endocrinol 2016: 3838646, 2016
Grotenfelt NE, Wasenius NS, Rönö K, Laivuori H, Stach-Lempinen B, Orho-Melander M, Schulz CA, Kautiainen H, Koivusalo SB, Eriksson JG. Interaction between rs10830963 polymorphism in MTNR1B and lifestyle intervention on occurrence of gestational diabetes. Diabetologia 59: 1655-1658, 2016
Guzzardi MA, Iozzo P, Salonen MK, Kajantie E, Airaksinen R, Kiviranta H, Rantakokko P, Eriksson JG. Exposure to Persistent Organic Pollutants Predicts Telomere Length in Older Age: Results from the Helsinki Birth Cohort Study. Aging Dis 7: 540-552, 2016
Guzzardi MA, Iozzo P, Salonen MK, Kajantie E, Eriksson JG. Maternal adiposity and infancy growth predict later telomere length: a longitudinal cohort study. Int J Obes (Lond) 40: 1063-1069, 2016
Honka MJ, Bucci M, Andersson J, Huovinen V, Guzzardi MA, Sandboge S, Savisto N, Salonen MK, Badeau RM, Parkkola R, Kullberg J, Iozzo P, Eriksson JG, Nuutila P. Resistance training enhances insulin suppression of endogenous glucose production in elderly women. J Appl Physiol 120: 633-639, 2016
Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, Eriksson JG et al. Freathy RM. Genome-wide associations for birth weight and correlations with adult disease. Nature 538: 248-252, 2016
Huovinen V, Bucci M, Lipponen H, Kiviranta R, Sandboge S, Raiko J, Koskinen S, Koskensalo K, Eriksson JG, Parkkola R, Iozzo P, Nuutila P. Femoral Bone Marrow Insulin Sensitivity Is Increased by Resistance Training in Elderly Female Offspring of Overweight and Obese Mothers. PLoS One 11: e0163723, 2016
Huovinen V, Ivaska KK, Kiviranta R, Bucci M, Lipponen H, Sandboge S, Raiko J, Eriksson JG, Parkkola R, Iozzo P, Nuutila P. Bone mineral density is increased after a 16-week resistance training intervention in elderly women with decreased muscle strength. Eur J Endocrinol 175: 571-582, 2016
Huvinen E, Grotenfelt NE, Eriksson JG, Rönö K, Klemetti MM, Roine R, Pöyhönen-Alho M, Tiitinen A, Andersson S, Laivuori H, Knip M, Valkama A, Meinilä J, Kautiainen H, Stach-Lempinen B, Koivusalo SB. Heterogeneity of maternal characteristics and impact on gestational diabetes (GDM) risk-Implications for universal GDM screening? Ann Med 48: 52-58, 2016
Ibrahim-Verbaas CA, Bressler J, Debette S, Schuur M, Smith AV, Bis JC, Davies G, Trompet S, Smith JA, Wolf C, Chibnik LB, Liu Y, Vitart V, Kirin M, Petrovic K, Polasek O, Zgaga L, Fawns-Ritchie C, Hoffmann P, Karjalainen J, Lahti J, Llewellyn DJ, Schmidt CO, Mather KA, Chouraki V, Sun Q, Resnick SM, Rose LM, Oldmeadow C, Stewart M, Smith BH, Gudnason V, Yang Q, Mirza SS, Jukema JW, deJager PL, Harris TB, Liewald DC, Amin N, Coker LH, Stegle O, Lopez OL, Schmidt R, Teumer A, Ford I, Karbalai N, Becker JT, Jonsdottir MK, Au R, Fehrmann RS, Herms S, Nalls M, Zhao W, Turner ST, Yaffe K, Lohman K, van Swieten JC, Kardia SL, Knopman DS, Meeks WM, Heiss G, Holliday EG, Schofield PW, Tanaka T, Stott DJ, Wang J, Ridker P, Gow AJ, Pattie A, Starr JM, Hocking LJ, Armstrong NJ, McLachlan S, Shulman JM, Pilling LC, Eiriksdottir G, Scott RJ, Kochan NA, Palotie A, Hsieh YC, Eriksson JG, Penman A, Gottesman RF, Oostra BA, Yu L, DeStefano AL, Beiser A, Garcia M, Rotter JI, Nöthen MM, Hofman A, Slagboom PE, Westendorp RG, Buckley BM, Wolf PA, Uitterlinden AG, Psaty BM, Grabe HJ, Bandinelli S, Chasman DI, Grodstein F, Räikkönen K, Lambert JC, Porteous DJ; Generation Scotland., Price JF, Sachdev PS, Ferrucci L, Attia JR, Rudan I, Hayward C, Wright AF, Wilson JF, Cichon S, Franke L, Schmidt H, Ding J, de Craen AJ, Fornage M, Bennett DA, Deary IJ, Ikram MA, Launer LJ, Fitzpatrick AL, Seshadri S, van Duijn CM, Mosley TH. GWAS for executive function and processing speed suggests involvement of the CADM2 gene. Mol Psychiatry 21: 189-197, 2016
Jarvis D, Mitchell JS, Law PJ, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Kaprio J, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Meklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Farrington SM, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper JL, Jenkins MA, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Taipale J, Aaltonen LA, Cheadle JP, Dunlop MG, Tomlinson IP, Houlston RS. Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer. Br J Cancer 115: 266-272, 2016
Järvinen S, Laine MK, Eriksson JG. Comparison of use of diabetic medication and clinical guidelines in four Nordic countries. Ann Med 48: 162-168, 2016
Kaartinen NE, Knekt P, Kanerva N, Valsta LM, Eriksson JG, Rissanen H, Jääskeläinen T, Männistö S. Dietary carbohydrate quantity and quality in relation to obesity: A pooled analysis of three Finnish population-based studies. Scand J Public Health 44: 385-393, 2016
Kaseva N, Pyhälä R, Pesonen AK, Räikkönen K, Järvenpää AL, Andersson S, Eriksson JG, Hovi P, Kajantie E. Diurnal Cortisol Patterns and Dexamethasone Suppression Test Responses in Healthy Young Adults Born Preterm at Very Low Birth Weight. PLoS One 11: e0162650, 2016
Kilpeläinen TO, Carli JF, Skowronski AA, Sun Q, Kriebel J, Feitosa MF, Hedman ÅK, Eriksson JG, et al. Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels. Nat Commun 7: 10494, 2016
Koivusalo SB, Rönö K, Klemetti MM, Roine RP, Lindström J, Erkkola M, Kaaja RJ, Pöyhönen-Alho M, Tiitinen A, Huvinen E, Andersson S, Laivuori H, Valkama A, Meinilä J, Kautiainen H, Eriksson JG, Stach-Lempinen B. Gestational Diabetes Mellitus Can Be Prevented by Lifestyle Intervention: The Finnish Gestational Diabetes Prevention Study (RADIEL): A Randomized Controlled Trial. Diabetes Care 39: 24-30, 2016
Kujala UM, Peltonen M, Laine MK, Kaprio J, Heinonen OJ, Sundvall J, Eriksson JG, Jula A, Sarna S, Kainulainen H. Branched-Chain Amino Acid Levels Are Related with Surrogates of Disturbed Lipid Metabolism among Older Men. Front Med (Lausanne) 3: 57, 2016
Kumpulainen SM, Heinonen K, Salonen MK, Andersson S, Wolke D, Kajantie E, Eriksson JG, Raikkonen K. Childhood cognitive ability and body composition in adulthood. Nutr Diabetes 6: e223, 2016
Lahti J, Ala-Mikkula H, Kajantie E, Haljas K, Eriksson JG, Räikkönen K. Associations Between Self-Reported and Objectively Recorded Early Life Stress, FKBP5 Polymorphisms, and Depressive Symptoms in Midlife. Biol Psychiatry 80: 869-877, 2016
Laine MK, Eriksson JG, Kujala UM, Kaprio J, Loo BM, Sundvall J, Bäckmand HM, Peltonen M, Jula A, Sarna S. Former male elite athletes have better metabolic health in late life than their controls. Scand J Med Sci Sports 26: 284-290, 2016
Lehtisalo J, Lindström J, Ngandu T, Kivipelto M, Ahtiluoto S, Ilanne-Parikka P, Keinänen-Kiukaanniemi S, Eriksson JG, Uusitupa M, Tuomilehto J, Luchsinger J; Finnish Diabetes Prevention Study. Association of Long-Term Dietary Fat Intake, Exercise, and Weight with Later Cognitive Function in the Finnish Diabetes Prevention Study. J Nutr Health Aging 20: 146-154, 2016
Lehtisalo J, Lindström J, Ngandu T, Kivipelto M, Ahtiluoto S, Ilanne-Parikka P, Keinänen-Kiukaanniemi S, Eriksson JG, Uusitupa M, Tuomilehto J, Luchsinger JA; Finnish Diabetes Prevention Study (DPS). Diabetes, glycaemia, and cognition-a secondary analysis of the Finnish Diabetes Prevention Study. Diabetes Metab Res Rev 32: 102-110, 2016
Lu Y, Day FR, Gustafsson S, Buchkovich ML, Na J, Bataille V, Eriksson JG et al. Nat Commun 7: 10495, 2016
Marioni RE, Ritchie SJ, Joshi PK, Hagenaars SP, Okbay A, Fischer K, Adams MJ, Hill WD, Davies G; Social Science Genetic Association Consortium, Nagy R, Amador C, Läll K, Metspalu A, Liewald DC, Campbell A, Wilson JF, Hayward C, Esko T, Porteous DJ, Gale CR, Deary IJ. Genetic variants linked to education predict longevity. Proc Natl Acad Sci U S A 113: 13366-13371, 2016
Matinolli HM, Männistö S, Sipola-Leppänen M, Tikanmäki M, Heinonen K, Lahti J, Lahti M, Wehkalampi K, Järvelin MR, Andersson S, Lano A, Vartia T, Wolke D, Eriksson JG, Vääräsmäki M, Räikkönen K, Kajantie E. Body image and eating behavior in young adults born preterm. Int J Eat Disord 49: 572-80, 2016
Meinilä J, Valkama A, Koivusalo SB, Stach-Lempinen B, Lindström J, Kautiainen H, Eriksson JG, Erkkola M. Healthy Food Intake Index (HFII) - Validity and reproducibility in a gestational-diabetes-risk population. BMC Public Health 16: 680, 2016
Metsälä J, Stach-Lempinen B, Gissler M, Eriksson JG, Koivusalo S Risk of Pregnancy Complications in Relation to Maternal Prepregnancy Body Mass Index: Population-Based Study from Finland 2006-10. Paediatr Perinat Epidemiol 30: 28-37, 2016
Mikkonen HM, Salonen MK, Häkkinen A, Olkkola M, Pesonen AK, Räikkönen K, Osmond C, Eriksson JG, Kajantie E. The lifelong socioeconomic disadvantage of single-mother background - the Helsinki Birth Cohort study 1934-1944. BMC Public Health 16: 817, 2016
Määttä S, Nuutinen T, Ray C, Eriksson JG, Weiderpass E, Roos E. Validity of self-reported out-of-school physical activity among Finnish 11-year-old children.
Arch Public Health 74: 11, 2016
Näkki A, Rodriguez-Fontenla C, Gonzalez A, Harilainen A, Leino-Arjas P, Heliövaara M, Eriksson JG, Tallroth K, Videman T, Kaprio J, Saarela J, Kujala UM. Association study of MMP8 gene in osteoarthritis. Connect Tissue Res 57: 44-52, 2016
Okbay A, Beauchamp JP, Fontana MA, Lee JJ, Pers TH, Rietveld CA, Eriksson JG, et al. Genome-wide association study identifies 74 loci associated with educational attainment. Nature 533: 539-534, 2016.
Orlando G, Law PJ, Palin K, Tuupanen S, Gylfe A, Hänninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Kaprio J, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Böhm J, Mecklin JP, Al-Tassan NA, Palles C, Martin L, Barclay E, Tenesa A, Farrington S, Timofeeva MN, Meyer BF, Wakil SM, Campbell H, Smith CG, Idziaszczyk S, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Ko Win A, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Taipale J, Cheadle JP, Dunlop MG, Tomlinson IP, Aaltonen LA, Houlston RS. Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. Hum Mol Genet 25: 2349-2359, 2016
Poranen-Clark T, von Bonsdorff MB, Törmäkangas T, Lahti J, Wasenius N, Räikkönen K, Osmond C, Salonen MK, Rantanen T, Kajantie E, Eriksson JG. Intellectual ability in young adulthood as an antecedent of physical functioning in older age. Age Ageing 45: 727-731, 2016
Rantalainen V, Lahti J, Henriksson M, Kajantie E, Tienari P, Eriksson JG, Raikkonen K. APOE and aging-related cognitive change in a longitudinal cohort of men. Neurobiol Aging 44: 151-158, 2016
Ried JS, Jeff M J, Chu AY, Bragg-Gresham JL, van Dongen J, Huffman JE, Eriksson JG, et al. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nat Commun 7: 13357, 2016
Schumann G, Liu C, O'Reilly P, Gao H, Song P, Xu B,, Eriksson JG et al. KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference. Proc Natl Acad Sci U S A 113: 14372-14377, 2016
Siren R, Eriksson JG, Vanhanen H. Observed changes in cardiovascular risk factors among high-risk middle-aged men who received lifestyle counselling: a 5-year follow-up. Scand J Prim Health Care 34: 336-342, 2016
Soini S, Mustajoki P, Eriksson JG. Weight loss methods and changes in eating habits among successful weight losers. Ann Med 48: 76-82, 2016
Takkunen MJ, Schwab US, de Mello VD, Eriksson JG, Lindström J, Tuomilehto J, Uusitupa MI; DPS Study Group. Longitudinal associations of serum fatty acid composition with type 2 diabetes risk and markers of insulin secretion and sensitivity in the Finnish Diabetes Prevention Study. Eur J Nutr 55: 967-979, 2016
Tikanmäki M, Tammelin T, Sipola-Leppänen M, Kaseva N, Matinolli HM, Miettola S, Eriksson JG, Järvelin MR, Vääräsmäki M, Kajantie E. Physical Fitness in Young Adults Born Preterm. Pediatrics 137(1), 2016
Valkama A, Koivusalo S, Lindström J, Meinilä J, Kautiainen H, Stach-Lempinen B, Rönö K, Klemetti M, Pöyhönen-Alho M, Tiitinen A, Huvinen E, Laivuori H, Andersson S, Roine R, Eriksson JG. The effect of dietary counselling on food intakes in pregnant women at risk for gestational diabetes: a secondary analysis of a randomised controlled trial RADIEL. Eur J Clin Nutr 70: 912-917, 2016
van den Berg SM, de Moor MH, Verweij KJ, Krueger RF, Luciano M, Arias Vasquez A, Matteson LK, Derringer J, Esko T, Amin N, Gordon SD, Hansell NK, Hart AB, Seppälä I, Huffman JE, Konte B, Lahti J, Lee M, Miller M, Nutile T, Tanaka T, Teumer A, Viktorin A, Wedenoja J, Abdellaoui A, Abecasis GR, Adkins DE, Agrawal A, Allik J, Appel K, Bigdeli TB, Busonero F, Campbell H, Costa PT, Smith GD, Davies G, de Wit H, Ding J, Engelhardt BE, Eriksson JG, Fedko IO, Ferrucci L, Franke B, Giegling I, Grucza R, Hartmann AM, Heath AC, Heinonen K, Henders AK, Homuth G, Hottenga JJ, Iacono WG, Janzing J, Jokela M, Karlsson R, Kemp JP, Kirkpatrick MG, Latvala A, Lehtimäki T, Liewald DC, Madden PA, Magri C, Magnusson PK, Marten J, Maschio A, Mbarek H, Medland SE, Mihailov E, Milaneschi Y, Montgomery GW, Nauck M, Nivard MG, Ouwens KG, Palotie A, Pettersson E, Polasek O, Qian Y, Pulkki-Råback L, Raitakari OT, Realo A, Rose RJ, Ruggiero D, Schmidt CO, Slutske WS, Sorice R, Starr JM, St Pourcain B, Sutin AR, Timpson NJ, Trochet H, Vermeulen S, Vuoksimaa E, Widen E, Wouda J, Wright MJ, Zgaga L; Generation Scotland., Porteous D, Minelli A, Palmer AA, Rujescu D, Ciullo M, Hayward C, Rudan I, Metspalu A, Kaprio J, Deary IJ, Räikkönen K, Wilson JF, Keltikangas-Järvinen L, Bierut LJ, Hettema JM, Grabe HJ, Penninx BW, van Duijn CM, Evans DM, Schlessinger D, Pedersen NL, Terracciano A, McGue M, Martin NG, Boomsma DI. Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium. Behav Genet 46: 170-82, 2016
van 't Hof FN, Ruigrok YM, Lee CH, Ripke S, Anderson G, de Andrade M, Baas AF, Blankensteijn JD, Böttinger EP, Bown MJ, Broderick J, Bijlenga P, Carrell DS, Crawford DC, Crosslin DR, Ebeling C, Eriksson JG, Fornage M, Foroud T, von Und Zu Fraunberg M, Friedrich CM, Gaál EI, Gottesman O, Guo DC, Harrison SC, Hernesniemi J, Hofman A, Inoue I, Jääskeläinen JE, Jones GT, Kiemeney LA, Kivisaari R, Ko N, Koskinen S, Kubo M, Kullo IJ, Kuivaniemi H, Kurki MI, Laakso A, Lai D, Leal SM, Lehto H, LeMaire SA, Low SK, Malinowski J, McCarty CA, Milewicz DM, Mosley TH, Nakamura Y, Nakaoka H, Niemelä M, Pacheco J, Peissig PL, Pera J, Rasmussen-Torvik L, Ritchie MD, Rivadeneira F, van Rij AM, Santos-Cortez RL, Saratzis A, Slowik A, Takahashi A, Tromp G, Uitterlinden AG, Verma SS, Vermeulen SH, Wang GT; Aneurysm Consortium; Vascular Research Consortium of New Zealand., Han B, Rinkel GJ, de Bakker PI. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. J Am Heart 5 pii: e002603, 2016
Westberg AP, Salonen MK, von Bonsdorff M, Kajantie E, Eriksson JG. Maternal body mass index in pregnancy and offspring physical and psychosocial functioning in older age: findings from the Helsinki Birth Cohort Study (HBCS). Ann Med 48: 268-274, 2016
Würtz P, Wang Q, Niironen M, Tynkkynen T, Tiainen M, Drenos F, Kangas AJ, Soininen P, Skilton MR, Heikkilä K, Pouta A, Kähönen M, Lehtimäki T, Rose RJ, Kajantie E, Perola M, Kaprio J, Eriksson JG, Raitakari OT, Lawlor DA, Davey Smith G, Järvelin MR, Ala-Korpela M, Auro K. 17. Metabolic signatures of birthweight in 18 288 adolescents and adults. Int J Epidemiol 45: 1539-1550, 2016
Zhao H, Eising E, de Vries B, Vijfhuizen LS; International Headache Genetics Consortium., Anttila V, Winsvold BS, Kurth T, Stefansson H, Kallela M, Malik R, Stam AH, Ikram MA, Ligthart L, Freilinger T, Alexander M, Müller-Myhsok B, Schreiber S, Meitinger T, Aromas A, Eriksson JG, Boomsma DI, van Duijn CM, Zwart JA, Quaye L, Kubisch C, Dichgans M, Wessman M, Stefansson K, Chasman DI, Palotie A, Martin NG, Montgomery GW, Ferrari MD, Terwindt GM, van den Maagdenberg AM, Nyholt DR. Gene-based pleiotropy across migraine with aura and migraine without aura patient groups. Cephalalgia 36: 648-657, 2016
Original article Tuija M Mikkola
Mikkola TM, Polku H, Sainio P, Koponen P, Koskinen S, Viljanen A. Hearing loss and use of health services: a population-based cross-sectional study among Finnish older adults. BMC Geriatr 16: 182, 2016
Original articles Eva Roos
Lehto R, Mäki P, Ray C, Laatikainen T, Roos E. Childcare use and overweight in Finland: cross-sectional and retrospective associations among 3- and 5-year-old children. Pediatr Obes 11: 136-143, 2016
Lehto E, Ray C, Haukkala A, Yngve A, Thorsdottir I, Roos E. Do descriptive norms related to parents and friends predict fruit and vegetable intake similarly among 11-year-old girls and boys? Br J Nutr 115: 168-175, 2016
Määttä S, Nuutinen T, Ray C, Eriksson JG, Weiderpass E, Roos E. Validity of self-reported out-of-school physical activity among Finnish 11-year-old children. Arch Public Health 74: 11, 2016
Prättälä R, Levälahti E, Lallukka T, Männistö S, Paalanen L, Raulio S, Roos E, Suominen S, Mäki-Opas T. From margarine to butter: predictors of changing bread spread in an 11-year population follow-up. Public Health Nutr 19: 1707-1717, 2016
Ray C, Määttä S, Lehto R, Roos G, Roos E. Influencing factors of children's fruit, vegetable and sugar-enriched food intake in a Finnish preschool setting - Preschool personnel's perceptions. Appetite 103: 72-79, 2016
Sarkkola C, Rounge TB, Simola-Ström S, von Kraemer S, Roos E, Weiderpass E. Validity of home-measured height, weight and waist circumference among adolescents. Eur J Public Health 26: 975-977, 2016