New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Nature Genetics

Volumn 45, Issue 1, 2013, Pages 76-82

  Horikoshi, Momoko ^a,b   Yaghootkar, Hanieh ^c   Mook Kanamori, Dennis O ^d,e   Sovio, Ulla ^f,g   Taal, H Rob ^d   Hennig, Branwen J ^h,i   Bradfield, Jonathan P ^j   St Pourcain, Beate ^k   Evans, David M ^k   Charoen, Pimphen ^f,l   Kaakinen, Marika ^m   Cousminer, Diana L ⁿ   Lehtimäki, Terho ^o,p   Kreiner Møller, Eskil ^q,r   Warrington, Nicole M ^s   Bustamante, Mariona ^t,u,v,w   Feenstra, Bjarke ^x   Berry, Diane J ^y   Thiering, Elisabeth ^z   Pfab, Thiemo ^aa,ab   Barton, Sheila J ^ac   Shields, Beverley M ^ad   Kerkhof, Marjan ^ae   Van Leeuwen, Elisabeth M ^d   Fulford, Anthony J ^h,i   Kutalik, Zoltán ^af,ag   Zhao, Jing Hua ^ah   Den Hoed, Marcel ^ah   Mahajan, Anubha ^b   Lindi, Virpi ^ai   Goh, Liang Kee ^aj,ak   Hottenga, Jouke Jan ^al   Wu, Ying ^am   Raitakari, Olli T ^an,ao   Harder, Marie N ^ap   Meirhaeghe, Aline ^aq,ar,as   Ntalla, Ioanna ^at   Salem, Rany M ^au,av,aw   Jameson, Karen A ^ac   Zhou, Kaixin ^ax   Monies, Dorota M ^ay   Lagou, Vasiliki ^a,b   Kirin, Mirna ^az   Heikkinen, Jani ⁿ   Adair, Linda S ^ba   Alkuraya, Fowzan S ^ay,bb,bc   Al Odaib, Ali ^ay   Amouyel, Philippe ^aq,ar,as   Andersson, Ehm Astrid ^ap   Bennett, Amanda J ^a   Blakemore, Alexandra I F ^f   Buxton, Jessica L ^f   Dallongeville, Jean ^aq,ar,as   Das, Shikta ^f   De Geus, Eco J C ^al   Estivill, Xavier ^v,w,bd   Flexeder, Claudia ^z   Froguel, Philippe ^ar,as,be   Geller, Frank ^x   Godfrey, Keith M ^ac,bf   Gottrand, Frédéric ^bg   Groves, Christopher J ^a   Hansen, Torben ^ap,bh   Hirschhorn, Joel N ^au,av,aw   Hofman, Albert ^d   Hollegaard, Mads V ^x   Hougaard, David M ^x   Hyppönen, Elina ^y   Inskip, Hazel M ^ac   Isaacs, Aaron ^d,bi   Jørgensen, Torben ^q,bj   Kanaka Gantenbein, Christina ^bk   Kemp, John P ^k   Kiess, Wieland ^bl   Kilpeläinen, Tuomas O ^ah,ai,ap   Klopp, Norman ^z,bm   Knight, Bridget A ^ad   Kuzawa, Christopher W ^bn   Mcmahon, George ^k   Newnham, John P ^s   Niinikoski, Harri ^bo   Oostra, Ben A ^d   Pedersen, Louise ^q,r   Postma, Dirkje S ^ae   Ring, Susan M ^k   Rivadeneira, Fernando ^d   Robertson, Neil R ^b   Sebert, Sylvain ^f,m   Simell, Olli ^an,bo   Slowinski, Torsten ^aa   Tiesler, Carla M T ^z,bp   Tönjes, Anke ^bl   Vaag, Allan ^bq,br   Viikari, Jorma S ^bo   Vink, Jacqueline M ^al   Vissing, Nadja Hawwa ^q,r   Wareham, Nicholas J ^ah   Willemsen, Gonneke ^al   Witte, Daniel R ^br   Zhang, Haitao ^j   Zhao, Jianhua ^j   Wilson, James F ^az   Stumvoll, Michael ^bl   Prentice, Andrew M ^h,i   Meyer, Brian F ^ay   Pearson, Ewan R ^ax   Boreham, Colin A G ^bs   Cooper, Cyrus ^ac   Gillman, Matthew W ^aw   Dedoussis, George V ^at   Moreno, Luis A ^bt   Pedersen, Oluf ^q,ap,bu,bv   Saarinen, Maiju ^an   Mohlke, Karen L ^am   Boomsma, Dorret I ^al   Saw, Seang Mei ^aj,ak,bw   Lakka, Timo A ^ai   Körner, Antje ^bl   Loos, Ruth J F ^ah   Ong, Ken K ^ah   Vollenweider, Peter ^bx   Van Duijn, Cornelia M ^d   Koppelman, Gerard H ^by   Hattersley, Andrew T ^ad   Holloway, John W ^bz   Hocher, Berthold ^ab,ca   Heinrich, Joachim ^z   Power, Chris ^y   Melbye, Mads ^x   Guxens, Mònica ^t,u,v   Pennell, Craig E ^s   Bønnelykke, Klaus ^q,r   Bisgaard, Hans ^q,r   Eriksson, Johan G ^{n,cb,cc,cd,ce}   Widén, Elisabeth ⁿ   Hakonarson, Hakon ^j,cf   Uitterlinden, André G ^d   Pouta, Anneli ^m,ce   Lawlor, Debbie A ^k   Smith, George Davey ^k   Frayling, Timothy M ^c   McCarthy, Mark I ^a,b,cg   Grant, Struan F A ^j,cf   Jaddoe, Vincent W V ^d   Jarvelin, Marjo Riitta ^f,m,ce,ch   Timpson, Nicholas J ^k   Prokopenko, Inga ^a,b   Freathy, Rachel M ^c,k   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF EXETER   (United Kingdom)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e WEILL CORNELL MEDICAL COLLEGE   (Qatar)

^f IMPERIAL COLLEGE LONDON   (United Kingdom)

^g LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^h MEDICAL RESEARCH COUNCIL   (United Kingdom)

ⁱ MEDICAL RESEARCH COUNCIL LABORATORIES   (Gambia)

^j CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^k UNIVERSITY OF BRISTOL   (United Kingdom)

^l MAHIDOL UNIVERSITY   (Thailand)

^m UNIVERSITY OF OULU   (Finland)

ⁿ UNIVERSITY OF HELSINKI   (Finland)

^o TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^p TAMPERE UNIVERSITY HOSPITAL   (Finland)

^q UNIVERSITY OF COPENHAGEN   (Denmark)

^r GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^s UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^t CENTRE FOR RESEARCH IN ENVIRONMENTAL EPIDEMIOLOGY CREAL   (Spain)

^u HOSPITAL DEL MAR   (Spain)

^v CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^w CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^x STATENS SERUM INSTITUT   (Denmark)

^y UNIVERSITY COLLEGE LONDON   (United Kingdom)

^z INSTITUTE OF EPIDEMIOLOGY   (Germany)

^aa CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^ab UNIVERSITY OF POTSDAM   (Germany)

^ac UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^ad ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^ae UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^af UNIVERSITY OF LAUSANNE   (Switzerland)

^ag SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^ah ADDENBROOKE S HOSPITAL   (United Kingdom)

^ai UNIVERSITY OF EASTERN FINLAND   (Finland)

^aj DUKE NUS MEDICAL SCHOOL   (Singapore)

^ak NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^al VU UNIVERSITY AMSTERDAM   (Netherlands)

^am UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^an UNIVERSITY OF TURKU   (Finland)

^ao UNIVERSITY OF TURKU   (Finland)

^ap Capital Region   (Denmark)

^aq INSERM   (France)

^ar INSTITUT PASTEUR DE LILLE   (France)

^as UNIV LILLE   (France)

^at HAROKOPIO UNIVERSITY   (Greece)

^au BOSTON CHILDREN S HOSPITAL   (United States)

^av BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^aw HARVARD MEDICAL SCHOOL   (United States)

^ax UNIVERSITY OF DUNDEE   (United Kingdom)

^ay KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^az UNIVERSITY OF EDINBURGH   (United Kingdom)

^ba IL   (United States)

^bb KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^bc ALFAISAL UNIVERSITY   (Saudi Arabia)

^bd UNIVERSITAT POMPEU FABRA   (Spain)

^be HAMMERSMITH HOSPITAL   (United Kingdom)

^bf UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^bg UNIVERSITÉ DE LILLE   (France)

^bh UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^bi LEIDEN UNIVERSITY   (Netherlands)

^bj GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^bk UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^bl UNIVERSITY OF LEIPZIG   (Germany)

^bm HANNOVER MEDICAL SCHOOL   (Germany)

^bn NORTHWESTERN UNIVERSITY   (United States)

^bo TURKU UNIVERSITY HOSPITAL   (Finland)

^bp LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^bq Rigshospitalet   (Denmark)

^br STENO DIABETES CENTER   (Denmark)

^bs UNIVERSITY COLLEGE DUBLIN   (Ireland)

^bt UNIVERSITY OF ZARAGOZA   (Spain)

^bu AARHUS UNIVERSITY   (Denmark)

^bv HAGEDORN RESEARCH INSTITUTE   (Denmark)

^bw SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^bx LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^by UNIVERSITY OF GRONINGEN   (Netherlands)

^bz UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^ca DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^cb HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^cc FOLKHÄLSAN RESEARCH CENTER   (Finland)

^cd VAASA CENTRAL HOSPITAL   (Finland)

^ce NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^cf UNIVERSITY OF PENNSYLVANIA   (United States)

^cg CHURCHILL HOSPITAL   (United Kingdom)

^ch PUBLIC HEALTH ENGLAND   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ADENYLATE CYCLASE 5; BETA 1 ADRENERGIC RECEPTOR; CDK5 REGULATORY SUBUNIT ASSOCIATED PROTEIN 1 LIKE 1; CYCLIN DEPENDENT KINASE 5; CYCLIN L1; CYCLINE; HIGH MOBILITY GROUP A2 PROTEIN; LCORL PROTEIN; NUCLEAR RECEPTOR COREPRESSOR; UNCLASSIFIED DRUG;

ARTICLE; BIRTH WEIGHT; BLOOD PRESSURE; BODY HEIGHT; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; EUROPE; FEMALE; FOLLOW UP; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MATERNAL SMOKING; META ANALYSIS (TOPIC); METABOLISM; MULTICENTER STUDY; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; PRENATAL GROWTH; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BIRTH WEIGHT; BLOOD PRESSURE; BODY HEIGHT; DIABETES MELLITUS, TYPE 2; FEMALE; FETAL DEVELOPMENT; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT, NEWBORN; MALE; META-ANALYSIS AS TOPIC; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI;

EID: 84871987100     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2477     Document Type: Article

References (53)

1. Godfrey, K.M. & Barker, D.J. Fetal nutrition and adult disease. Am. J. Clin. Nutr. 71, 1344SY1352S (2000).
2. Freathy, R.M. et al. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat. Genet. 42, 430-435 (2010).
3. Zhao, J. et al. Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes 58, 2414-2418 (2009).
4. Andersson, E.A. et al. Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight. Diabetologia 53, 1908-1916 (2010).
5. Freathy, R.M. et al. Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes 58, 1428-1433 (2009).
6. Hattersley, A.T. & Tooke, J.E. The fetal insulin hypothesis: An alternative explanation of the association of low birthweight with diabetes and vascular disease. Lancet 353, 1789-1792 (1999).
7. Dupuis, J. et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat. Genet. 42, 105-116 (2010).
8. Saxena, R. et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat. Genet. 42, 142-148 (2010).
9. Strawbridge, R.J. et al. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes 60, 2624-2634 (2011).
10. Steinthorsdottir, V. et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat. Genet. 39, 770-775 (2007).
11. Metzger, B.E. et al. Hyperglycemia and adverse pregnancy outcomes. N. Engl. J. Med. 358, 1991-2002 (2008).
12. Freathy, R.M. et al. Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: Common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the International Association of Diabetes and Pregnancy Study Groups. Diabetes 59, 2682-2689 (2010).
13. Hattersley, A.T. et al. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat. Genet. 19, 268-270 (1998).
14. Johnson, A.D. et al. Association of hypertension drug target genes with blood pressure and hypertension in 86,588 individuals. Hypertension 57, 903-910 (2011).
15. Lenfant, C. Low birth weight and blood pressure. Metabolism 57 (suppl. 2), S32-S35 (2008).
16. Gamborg, M. et al. Birth weight and systolic blood pressure in adolescence and adulthood: Meta-regression analysis of sex- and age-specific results from 20 Nordic studies. Am. J. Epidemiol. 166, 634-645 (2007).
17. Ehret, G.B. et al. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 478, 103-109 (2011).
18. Ikram, M.A. et al. Common variants at 6q22 and 17q21 are associated with intracranial volume. Nat. Genet. 44, 539-544 (2012).
19. Taal, H.R. et al. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nat. Genet. 44, 532-538 (2012).
20. Sovio, U. et al. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. PLoS Genet. 5, e1000409 (2009).
21. Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832-838 (2010).
22. Voight, B.F. et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat. Genet. 42, 579-589 (2010).
23. Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet. 39, 906-913 (2007).
24. Li, Y., Willer, C.J., Ding, J., Scheet, P. & Abecasis, G.R. MaCH: Using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 34, 816-834 (2010).
25. Purcell, S. et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
26. Aulchenko, Y.S., Ripke, S., Isaacs, A. & van Duijn, C.M. GenABEL: An R library for genome-wide association analysis. Bioinformatics 23, 1294-1296 (2007).
27. Aulchenko, Y.S., Struchalin, M.V. & van Duijn, C.M. ProbABEL package for genome-wide association analysis of imputed data. BMC Bioinformatics 11, 134 (2010).
28. Krestyaninova, M. et al. A System for Information Management in BioMedical Studies - SIMBioMS. Bioinformatics 25, 2768-2769 (2009).
29. Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
30. Willer, C.J., Li, Y. & Abecasis, G.R. METAL: Fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190-2191 (2010).
31. Mägi, R. & Morris, A.P. GWAMA: Software for genome-wide association meta-analysis. BMC Bioinformatics 11, 288 (2010).
32. Yang, J. et al. Genomic inflation factors under polygenic inheritance. Eur. J. Hum. Genet. 19, 807-812 (2011).
33. Weedon, M.N. et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nat. Genet. 40, 575-583 (2008).
34. Higgins, J.P. & Thompson, S.G. Quantifying heterogeneity in a meta-analysis. Stat. Med. 21, 1539-1558 (2002).
35. Altshuler, D. et al. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat. Genet. 26, 76-80 (2000).
36. Grant, S.F. et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat. Genet. 38, 320-323 (2006).
37. Sladek, R. et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445, 881-885 (2007).
38. Zeggini, E. et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316, 1336-1341 (2007).
39. Scott, L.J. et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316, 1341-1345 (2007).
40. Saxena, R. et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316, 1331-1336 (2007).
41. Sandhu, M.S. et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat. Genet. 39, 951-953 (2007).
42. Gudmundsson, J. et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat. Genet. 39, 977-983 (2007).
43. Zeggini, E. et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat. Genet. 40, 638-645 (2008).
44. Rung, J. et al. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat. Genet. 41, 1110-1115 (2009).
45. Prokopenko, I. et al. Variants in MTNR1B influence fasting glucose levels. Nat. Genet. 41, 77-81 (2009).
46. Kong, A. et al. Parental origin of sequence variants associated with complex diseases. Nature 462, 868-874 (2009).
47. Kooner, J.S. et al. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nat. Genet. 43, 984-989 (2011).
48. Yamauchi, T. et al. A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. Nat. Genet. 42, 864-868 (2010).
49. Weedon, M.N. et al. Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes 54, 576-581 (2005).
50. Freathy, R.M. et al. Type 2 diabetes TCF7L2 risk genotypes alter birth weight: A study of 24,053 individuals. Am. J. Hum. Genet. 80, 1150-1161 (2007).
51. Teslovich, T.M. et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707-713 (2010).
52. Speliotes, E.K. et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat. Genet. 42, 937-948 (2010).
53. Niklasson, A. et al. An update of the Swedish reference standards for weight, length and head circumference at birth for given gestational age (1977-1981). Acta Paediatr. Scand. 80, 756-762 (1991).