Publications 2017
1. Allebrandt KV, Teder-Laving M, Cusumano P, Frishman G, Levandovski R, Ruepp A, Hidalgo MPL, Costa R, Metspalu A, Roenneberg T, De Pittà C. “Identifying pathways modulating sleep duration: from genomics to transcriptomics”. Scientific Reports, 2017, 7(4555). doi: 10.1038/s41598-017-04027-7.
2. Auffray, C; Sagner, M; Abdelhak, S; Adcock, I; Agusti, A; Amaral, M; Antonarakis, S; … Metspalu, A; … Uhlen, M; van der Werf, S; Villoslada, P; Vinciguerra, M; Volpert, V; Webb, S; Wouters, E; Sanz, F; Nobrega, F. “Viva Europa, a Land of Excellence in Research and Innovation for Health and Wellbeing”. Progress in Preventive Medicine, 2017, 2(3), p e006. doi: 10.1097/pp9.0000000000000006
3. Chheda H, Palta P, Pirinen M, McCarthy S, Walter K, Koskinen S, Salomaa V, Daly M, Durbin R, Palotie A, Aittokallio T, Ripatti S. “Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom”. Eur J Hum Genet. 2017 Feb 1. doi: 10.1038/ejhg.2016.205.
4. CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium (…Esko, T; Metspalu, A; Milani, L; ) “Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.” Nature Genetics, 2017, 49(1):27-35. doi:10.1038/ng.3725
5. Dand N, Mucha S, Tsoi LC3, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN. “Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signaling”. Human Molecular Genetics, 2017, 26(11): 4301-4313. DOI: 10.1093/hmg/ddx328.
6. Day et al. (Natalia Pervjakova, Reedik Mägi, Andres Metspalu, Lili Milani). “Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk”. Nature Genetics, 2017, 49(6): 834-841. DOI:10.1038/ng.3841 Epub 2017 Apr 24
7. Direk, N; Williams, S; ….. Esko, T; ….. Metspalu, A; …Sullivan, P. “An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype”. Biological Psychiatry, 2017, 82(5): 322-329. https://doi.org/10.1016/j.biopsych.2016.11.013
8. Duncan L, Yilmaz Z, Gaspar H, Walters R, Goldstein J, Anttila V, Bulik-Sullivan B, Ripke S; Eating Disorders Working Group of the Psychiatric Genomics Consortium (Esko, T, Fischer, K, Männik, K, Metspalu, A.), Thornton L, Hinney A, Daly M, Sullivan PF, Zeggini E, Breen G, Bulik CM. “The American Journal of Psychiatry, 2017, 174(9): 850-858. DOI: https://doi.org/10.1176/appi.ajp.2017.16121402
9. Doucet, Marika; Karl Friedrich Becker, Jens Björkman, Jacques Bonnet, Bruno Clément, Maria-Grazia Daidone, Charles Duyckaerts, Gilles Erb, Helmuth Haslacher, Paul Hofman, Berthold Huppertz, Christophe Junot, Joakim Lundeberg, Andres Metspalu, Marialuisa Lavitrano, Jan-Eric Litton, Helen M. Moore, Manuel Morente, Ben-Youssef Naimi, Uwe Oelmueller, Bill Ollier, Barbara Parodi, Liangliang Ruan, Giorgio Stanta, Paola Turano, Jim Vaught, Peter Watson, H.-Erich Wichmann, Martin Yuille, Myriam Zaomi, Kurt Zatloukal, and Georges Daghe. “Quality Matters: 2016 Annual Conference of the National Infrastructures for Biobanking”. Biopreservation and Biobanking, 2017, 15(3), pp: 270-276. DOI: 10.1089/bio.2016.0053
10. Eichstaedt CA, Pagani L, Antao T, Inchley CE, Cardona A, Mörseburg A, Clemente FJ, Sluckin TJ, Metspalu E, Mitt M, Mägi R, Hudjashov G, Metspalu M, Mormina M, Jacobs GS, Kivisild T. “Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations”. Scientific Reports, 2017, 7(1):13042. DOI: 10.1038/s41598-017-13382-4.
11. Esko, T; Hirschhorn, J.N; Feldman HA, Hsu YH, Deik AA, Clish CB, Ebbeling CB, Ludwig DS. “Metabolomic profiles as reliable biomarkers of dietary composition”. Am J Clin Nutr. 2017, doi: 10.3945/ajcn.116.144428
12. Graff et al. (Toomas Haller, Reedik Mägi, Markus Perola, Andres Metspalu). “Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults”. PLOS Genetics, 2017, 13(4): e1006528. DOI:10.1371/journal.pgen.1006528
13. Gorski et al. (Tõnu Esko, Andres Metspalu, Evelin, Mihailov). “1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function”. Sci. Rep. 2017, 7, 45040; doi: 10.1038/srep45040.
14. Guo, Michael H.; Satish K. Nandakumar, Jacob C. Ulirsch, Seyedeh M. Zekavat, Jason D. Buenrostro, Pradeep Natarajan, Rany M. Salem, Roberto Chiarle, Mario Mitt, Mart Kals, Kalle Pärn, Krista Fischer, Lili Milani, Reedik Mägi, Priit Palta, Stacey B. Gabriel, Andres Metspalu, Eric S. Lander, Sekar Kathiresan, Joel N. Hirschhorn, Tõnu Esko, and Vijay G. Sankaran. “Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms”. PNAS, 2017, 114(3), E327-E336, DOI: 10.1073/pnas.1619052114
15. Guha M, Saare M, Maslovskaja J, Kisand K, Liiv I, Haljasorg U, Tasa T, Metspalu A, Milani L, Peterson P. “DNA breaks and chromatin structural changes enhance the transcription of Autoimmune Regulator target genes.” DNA breaks and chromatin structural changes enhance the transcription of Autoimmune Regulator target genes.” The Journal of Biological Chemistry, 2017, M116.764704: 1-25. DOI: 10.1074/jbc.M116.764704.
16. Haller, Toomas; Leitsalu, Liis; Fischer, Krista; Nuotio, Marja-Liisa; Esko, Tonu; Boomsma, Dorothea Irene; Kyvik, Kirsten Ohm; Spector, Tim D; Perola, Markus; Metspalu, Andres. “MixFit: Methodology for Computing Ancestry-Related Genetic Scores at the Individual Level and Its Application to the Estonian and Finnish Population Studies”. PLOS One; 2017, 12(1), e0170325, DOI:10.1371/journal.pone.0170325
17. Haller-Kikkatalo K, Alnek K, Metspalu A, Mihailov E, Metsküla K, Kisand K, Pisarev H, Salumets A, Uibo R. “Demographic associations for autoantibodies in disease-free individuals of a European population”. Sci Rep. 2017; 7:44846. doi: 10.1038/srep44846.
18. Hulmi JJ, Isola V, Suonpää M, Järvinen NJ, Kokkonen M, Wennerström A, Nyman K, Perola M, Ahtiainen JP, Häkkinen K. “The Effects of Intensive Weight Reduction on Body Composition and Serum Hormones in Female Fitness Competitors”. Front. Physiol. 2017. 7:689. doi: 10.3389/fphys.2016.00689
19. Joshi, PK; Pirastu, N; Kentistou, KA; Fischer, K; … Reedik Mägi, Lili Milani, Andres Metspalu… Esko, T; Kutalik, Z and Wilson JF. “Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity”. Nature Communications, 2017, 8(1): 910. DOI: 10.1038/s41467-017-00934-5.
20. Justice et al. (Krista Fischer, Natalia Pervjakova, Tõnu Esko, Andres Metspalu, Andrew P. Morris). “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits”. Nature Communications, 2017, 8, pp: 14977. DOI:10.1038/ncomms14977
21. Kaakinen M, Mägi R, Fischer K, Heikkinen J, Järvelin MR, Morris AP, Prokopenko I. “MARV: a tool for genome-wide multi-phenotype analysis of rare variants.” BMC Bioinformatics. 2017;18(1):110. doi: 10.1186/s12859-017-1530-2.
22. Kaakinen M, Mägi R, Fischer K, Heikkinen J, Järvelin MR, Morris AP, Prokopenko I. “A rare-variant test for high-dimensional data”. European Journal of Human Genetics, 2017. 25(8): 988-994. doi: 10.1038/ejhg.2017.90
23. Klaeger, Susan ; Stephanie Heinzlmeir, Mathias Wilhelm, Harald Polzer, Binje Vick, Paul-Albert Koenig, Maria Reinecke, Benjamin Ruprecht, Svenja Petzoldt, Chen Meng, Jana Zecha, Katrin Reiter, Huichao Qiao, Dominic Helm, Heiner Koch, Melanie Schoof, Giulia Canevari, Elena Casale, Stefania Re Depaolini, Annette Feuchtinger, Zhixiang Wu, Tobias Schmidt, Lars Rueckert, Wilhelm Becker, Jan Huenges, Anne-Kathrin Garz, Bjoern-Oliver Gohlke, Daniel Paul Zolg, Gian Kayser, Tonu Vooder, Robert Preissner, Hannes Hahne, Neeme Tõnisson, Karl Kramer, Katharina Götze, Florian Bassermann, Judith Schlegl, Hans-Christian Ehrlich, Stephan Aiche, Axel Walch, Philipp A. Greif, Sabine Schneider, Eduard Rudolf Felder, Juergen Ruland, Guillaume Médard, Irmela Jeremias, Karsten Spiekermann and Bernhard Kuster. “The target landscape of clinical kinase drugs”. Science, 2017: 358 (6367), eaan4368. DOI: 10.1126/science.aan4368
24. Kantojärvi K, Liuhanen J, Saarenpää-Heikkilä O, Satomaa AL, Kylliäinen A, Pölkki P, Jaatela J, Toivola A, Milani L, Himanen SL, Porkka-Heiskanen T, Paavonen J, Paunio T. “Variants in calcium voltage-gated channel subunit Alpha1 C-gene (CACNA1C) are associated with sleep latency in infants.” PLos One 2017, 12(8): e0180652. DOI: 10.1371/journal.pone.0180652
25. Kasela S, Kisand K, Tserel L, Kaleviste E, Remm A, Fischer K, Esko T, Westra HJ, Fairfax BP, Makino S, Knight JC, Franke L, Metspalu A, Peterson P, Milani L. “Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells.” PLoS Genet. 2017;13(3): e1006643. doi: 10.1371/journal.pgen.1006643
26. Kerminen S, Havulinna AS, Hellenthal G, Martin AR, Sarin AP, Perola M, Palotie A, Salomaa V, Daly MJ, Ripatti S, Pirinen M. “Fine-Scale Genetic Structure in Finland”. G3 (Genes/Genomes/Genetics), 2017, 7(10): 3459-3468. DOI: 10.1534/g3.117.300217.
27. Koel, Mariann, Urmo Võsa, Kaarel Krjutškov, Elisabet Einarsdottir, Juha Kere, Juha Tapanainen, Shintaro Katayama, Sulev Ingerpuu, Viljar Jaks, Ulf-Hakan Stenman, Karolina Lundin, Timo Tuuri, Andres Salumets. “Optimizing bone morphogenic protein 4-mediated human embryonic stem cell differentiation into trophoblast-like cells using fibroblast growth factor 2 and transforming growth factor-β/activin/nodal signalling inhibition”. Science Direct. Reproductive BioMedicine Online, 2017, https://doi.org/10.1016/j.rbmo.2017.06.003
28. Kukushkina V, Modhukur V, Suhorutšenko M, Peters M, Mägi R, Rahmioglu N, Velthut-Meikas A, Altmäe S, Esteban FJ, Vilo J, Zondervan K, Salumets A, Laisk-Podar T. “DNA methylation changes in endometrium and correlation with gene expression during the transition from pre-receptive to receptive phase”. Scientific Reports, 2017, 7(3916), doi: 10.1038/s41598-017-03682-0
29. Kõks, G; Fischer, K; Kõks, S. “Smoking-related general and cause-specific mortality in Estonia”. BMC Public Health (2017), 18:34. doi: 10.1186/s12889-017-4590-3
30. Kääriäinen, H; Muilu, J; Perola, M; Kristiansson, K. “Genetics in an isolated population like Finland: a different basis for genomic medicine?” J Community Genet, 2017, 8(4): 319-326. DOI: 10.1007/s12687-017-0318-4.
31. Leitsalu, L and Metspalu, A. “ From Biobanking to Precision Medicine: The Estonian Experience. “ Genomic and Precision Medicine. Foundations, Translation, and Implementation. Third Editon. Ed. by G.S. Ginsburg, H.F. Willard. Elsever, 2017. ISBN: 978-0-12-800681-8.
32. Lepik, K; Annilo, T; Kukuškina, V; eQTLGen Consortium; Kisand, K; Kutalik, Z; Peterson, P, Peterson, H. “C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis”. PLoS Comput. Biol. 2017, 13(9): e1005766. DOI: 10.1371/journal.pcbi.1005766.
33. Li M, Li Y, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C, Gorski M, ..., Mägi R, Malerba G, Mihailov E…, Esko T, ..., Metspalu A, Mitchell P, Nauck M, Nürnberg P, Orho-Melander M, Parsa A, Pedersen O, Peters A, Peters U, Polasek O, Porteous D, Probst-Hensch NM, Psaty BM, Qi L, Raitakari OT, Reiner AP, Rettig R, Ridker PM, Rivadeneira F, Rossouw JE, Schmidt F, Siscovick D, Soranzo N, Strauch K, Toniolo D, Turner ST, Uitterlinden AG, Ulivi S, Velayutham D, Völker U, Völzke H, Waldenberger M, Wang JJ, Weir DR, Witte D, Kuivaniemi H, Fox CS, Franceschini N, Goessling W, Köttgen A, Chu AY. “SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function”. J Am Soc Nephrol. 2017; 28(3): 981-994. doi: 10.1681/ASN.2016020131
34. Li, Dong; Chang, Xio (… ) Eating Disorders Working Group of the Psychiatric Genomics Consortium (… Tõnu Esko, Krista Fischer, Katrin Männik, Andres Metspalu…). “A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling”. Scientific Reports, 2017, 7(3847), doi: 10.1038/s41598-017-01674-8
35. Liu DJ, Peloso GM, … Tõnu Esko, … Howson JMM, Danesh J, McCarthy MI, Cowan CA, Abecasis G, Deloukas P, Musunuru K, Willer CJ, Kathiresan S. “Exome-wide association study of plasma lipids in > 300,000 individuals”. Nature Genetics, 2017, 49(12): 1758-1766. DOI: 10.1038/ng.3977
36. Lloyd-Jones LR, Holloway A, McRae A, Yang J, Small K, Zhao J, Zeng B, Bakshi A, Metspalu A, Dermitzakis M, Gibson G, Spector T, Montgomery G, Esko T, Visscher PM, Powell JE. “The Genetic Architecture of Gene Expression in Peripheral Blood.” Am J Hum Genet. 2017;100(2):371. doi: 10.1016/j.ajhg.2017.01.026.
37. Lokki, AI; Emma Daly, Michael Triebwasser, Mitja I. Kurki, Elisha D.O. Roberson, Paavo Häppölä, Kirsi Auro, Markus Perola, Seppo Heinonen, Eero Kajantie, Juha Kere, Katja Kivinen, Anneli Pouta, Jane E. Salmon, Seppo Meri, Mark Daly, John P. Atkinson, Hannele Laivuori. “Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish Population”. Hypertension, 2017. 70(2): 365-371.
38. Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium (… Andres Metspalu…), Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. “Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes”. Molecular Psychiatry, 2017, 22: 836-849. doi: 10.1038/mp.2016.84
39. Lukowski SW, Lloyd-Jones LR, Holloway A, Kirsten H, Hemani G, Yang J, Small K, Zhao J, Metspalu A, Dermitzakis ET, Gibson G, Spector TD, Thiery J, Scholz M, Montgomery GW, Esko T, Visscher PM, Powell JE. “Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood.” Nature Communications, 2017, 8(1): 483. DOI: 10.1038/s41467-017-00473-z.
40. Läll, Kristi; Mägi, Reedik; Morris, Andrew P; Metspalu, Andres; Fischer, Krista. “Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores”. Genetics in Medicine, 2017, 19(3): 322-329. DOI: 10.1038/gim.2016.103 (Raporteeritud 2016)
41. Mace, A; Tuke, MA; Deelen, P; Kristiansson, K; Mattsson, H; Margit Nõukas, ... Reedik Mägi, Markus Perola, Katrin Männik, Andres Metspalu, ... Reymond, A; Frayling, TM & Kutalik, Z. “CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric trits”. Nature Communications, 2017, 8(1): 744. DOI: 10.1038/s41467-017-00556-x.
42. Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, Cingolani P, Pers TH, … Esko T, Mägi R, Milani L, Mihailov E, Metspalu A, …Morris AP, Boehnke M, Altshuler D, McCarthy MI, Gloyn AL, Lindgren CM. “A low-frequency inactivating AKT2 variant enriched in the Finnish population is associated with fasting insulin levels and type 2 diabetes risk. “ Diabetes 2017, 66(7): 2019-2031. https://doi.org/10.2337/db16-1329
43. Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, Rüeger S, Thorleifsson G, Justice AE, Lamparter D, Stirrups KE, Turcot V, Young KL, Winkler TW, Esko T, ..., Metspalu A, ... EPIC-InterAct Consortium; CHD Exome+ Consortium; ExomeBP Consortium; T2D-Genes Consortium; GoT2D Genes Consortium; Global Lipids Genetics Consortium; ReproGen Consortium; MAGIC Investigators, Rotter JI, Boehnke M, Kathiresan S, McCarthy MI, Willer CJ, Stefansson K, Borecki IB, Liu DJ, North KE, Heard-Costa NL, Pers TH, Lindgren CM, Oxvig C, Kutalik Z, Rivadeneira F, Loos RJ, Frayling TM, Hirschhorn JN, Deloukas P, Lettre G. “Rare and low-frequency coding variants alter human adult height.” Nature. 2017; 542(7640): 186-190. doi: 10.1038/nature21039
44. McLaughlin et al. (Schizophrenia Working Group of the Psychiatric Genomics Consortium: … Andres Metspalu, Lili Milani, Mari Nelis, Tõnu Esko…). “Genetic correlation between amyotrophic lateral sclerosis and schizophrenia”. Nature Communications, 2017, 8, 14774. doi: 10.1038/ncomms14774
45. Mitt M, Kals M, Pärn K, Gabriel SB, Lander ES, Palotie A, Ripatti S, Morris AP, Metspalu A, Esko T, Mägi R, Palta P. “Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel.” Eur J Hum Genet. 2017 Apr 12. doi: 10.1038/ejhg.2017.51
46. Mägi, Reedik, Yury V. Suleimanov, Geraldine M. Clarke, Marika Kaakinen, Krista Fischer, Inga Prokopenko and Andrew P. Morris. “SCOPA and META-SCOPA: software for the analysis and aggregation of genome-wide association studies of multiple correlated phenotypes”. BMC Bioinformatics, 2017, 18(25). DOI: 10.1186/s12859-016-1437-3
47. Mägi, R; Horikoshi, M; Sofer, T; Mahajan, A; Kitajima, H; Franceschini, N; McCarthy, MI; Morris, AP. Group Author(s): COGENT- Kidney Consortium ; T2D- GENES Consortium. “Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution”. Human Molecular Genetics, 2017, 26(18): 3639-3650. DOI:
48. Mõttus, R; Realo, A; Vainik, U; Allik, J and Esko, T. “Educational Attainment and Personality Are Genetically Intertwined”. Psychological Science, 2017, 28(11): 1631-1639. https://doi.org/10.1177/0956797617719083
49. NCD Risk Factor Collaboration (NCD-RisC) …Krista Fischer:.. “Worldwide trends in blood pressure from 1975 to 2015: a pooled analysis of 1479 population-based measurement studies with 19·1 million participants”. The Lancet. 2017, 389(10065), pp: 37-55. http://dx.doi.org/10.1016/S0140-6736(16)31919-5
50. Nath AP, Ritchie SC, Byars SG, Fearnley LG, Havulinna AS, Joensuu A, Kangas AJ, Soininen P, Wennerström A, Milani L, Metspalu A, Männistö S, Würtz P, Kettunen J, Raitoharju E, Kähönen M1 Juonala M, Palotie A, Ala-Korpela M, Ripatti S, Lehtimäki T, Abraham G, Raitakari O, Salomaa V, Perola M, Inouye M. “An interaction map of circulating metabolites, immune gene networks, and their genetic regulation”. Genome Biology, 2017, 18:146. DOI: 10.1186/s13059-017-1279-y
51. Nelson CP, Goel A, Butterworth AS, Kanoni S, Webb TR, Marouli E7,, Zeng L, Ntalla I, Lai FY, Hopewell JC, Giannakopoulou O, Jiang T, Hamby SE, Di Angelantonio E, Assimes TL, Bottinger EP, Chambers JC, Clarke R, Palmer CNA, Cubbon RM, Ellinor P, Ermel R, Evangelou E, Franks PW, Grace C, Gu D, Hingorani AD, Howson JMM, Ingelsson E, Kastrati A, Kessler T, Kyriakou T, Lehtimäki T, Lu X, Lu Y, März W, McPherson R, Metspalu A, Pujades-Rodriguez M, Ruusalepp A, Schadt EE, Schmidt AF, Sweeting MJ, Zalloua PA, AlGhalayini K, Keavney BD, Kooner JS, Loos RJF, Patel RS, Rutter MK, Tomaszewski M, Tzoulaki I, Zeggini E, Erdmann J, Dedoussis G, Björkegren JLM; EPIC-CVD Consortium; CARDIoGRAMplusC4D; UK Biobank CardioMetabolic Consortium CHD working group, Schunkert H, Farrall M, Danesh J, Samani NJ, Watkins H, Deloukas P. “Association analyses based on false discovery rate implicate new loci for coronary artery disease”. Nature Genetics 2017, 49(9); 1385-1391. DOI: 10.1038/ng.3913.
52. Org E, Blum Y, Kasela S, Mehrabian M, Kuusisto J, Kangas AJ, Soininen P, Wang Z, Ala-Korpela M, Hazen SL, Laakso M, Lusis AJ. “Relationships between gut microbiota, plasma metabolites, and metabolic syndrome traits in the METSIM cohort.” Genome Biology 2017, 18:70 pp:1-14. DOI: 10.1186/s13059-017-1194-2
53. Pappa, L; Kals, M; Kivistik, P-A; Metspalu, A; Paal, A; Nikopensius, T. “Exome analysis in an Estonian multiplex family with neural tube defects—a case report”. Child’s Nervous System, 2017, 33(9): 1575-1581. doi: 10.1007/s00381-017-3491-1
54. Pirastu N, Joshi PK, de Vries PS, Cornelis MC, McKeigue PM, Keum N, Franceschini N, Colombo M, Giovannucci EL7, Spiliopoulou A, Franke L, North KE, Kraft P, Morrison AC, Esko T, Wilson JF. “GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk”. Nature Communications, 2017; 8(1): 1584. doi: 10.1038/s41467-017-01490-8.
55. Reisberg, S; Iljasenko, T; Läll, K; Fischer, K; Vilo, J. “Comparing distributions of polygenic risk scores of type 2 diabetes and coronary heart disease within different populations”, PLoS ONE, 2017. 12(7), e0179238. doi: 10.1371/journal.pone.0179238
56. Robinson, MR; … Tõnu Esko, Lili Milani, Reedik Mägi, Andres Metspalu… Visscher, PM. “Genotype-covariate interaction effects and the heritability of adult body mass index”. Nature Genetics, 2017, 49(8): 1174-1181. doi: 10.1038/ng.3912
57. Schumann G, Liu C, O'Reilly P, Gao H, Song P, Xu B, Ruggeri B, Amin N, Jia T, Preis S, Segura Lepe M, Akira S, Barbieri C, Baumeister S, Cauchi S, Clarke TK, Enroth S, Fischer K, …, Mangelsdorf DJ, Müller CP, Levy D, Elliott P. “KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference.” PNAS, 2016. 113(50): 14372-14372. DOI: 10.1073/pnas.1611243113
58. Schormair, B; … Teder-Laving, M; Metspalu, A; ….Perola, M; …Winkelmann, J. “Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis “. Lancet Neurology, 2017, 16(11): 898-907. https://doi.org/10.1016/S1474-4422(17)30327-7
59. Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, Kaakinen M, Pervjakova N, …, Esko T, Mihailov E, …, Metspalu A, Morris AD, Palmer CN, Hu FB, Thorsteinsdottir U, Stefansson K, Dupuis J, Morris AP, Boehnke M, McCarthy MI, Prokopenko I; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium. “An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.” Diabetes, 2017, 66(11): 2888-2902. doi: 10.2337/db16-1253
60. Shungin D, Deng WQ, Varga TV, Luan J, Mihailov E, Metspalu A; GIANT Consortium, Morris AP, Forouhi NG, Lindgren C, Magnusson PKE, Pedersen NL, Hallmans G, Chu AY, Justice AE, Graff M, Winkler TW, Rose LM, Langenberg C, Cupples LA, Ridker PM, Wareham NJ, Ong KK, Loos RJF, Chasman DI, Ingelsson E, Kilpeläinen TO, Scott RA, Mägi R, Paré G, Franks PW. “Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions”. PLoS Genet. 2017, 13(6): e1006812. doi: 10.1371/journal.pgen.1006812
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