Inference of the genetic architecture underlying bmi and height with the use of 20,240 sibling pairs

American Journal of Human Genetics

Volumn 93, Issue 5, 2013, Pages 865-875

  Hemani, Gibran ^a   Yang, Jian ^a   Vinkhuyzen, Anna ^a   Powell, Joseph E ^a   Willemsen, Gonneke ^b,c   Hottenga, Jouke Jan ^c,d   Abdellaoui, Abdel ^b,d   Mangino, Massimo ^f   Valdes, Ana M ^f   Medland, Sarah E ^g   Madden, Pamela A ^h   Heath, Andrew C ^h   Henders, Anjali K ^g   Nyholt, Dale R ^g   De Geus, Eco J C ^b,c,d   Magnusson, Patrik K E ⁱ   Ingelsson, Erik ^i,j   Montgomery, Grant W ^g   Spector, Timothy D ^f   Boomsma, Dorret I ^b,c,d   Pedersen, Nancy L ⁱ   Martin, Nicholas G ^g   Visscher, Peter M ^a   more..

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d

^e Netherlands

^f KING'S COLLEGE LONDON   (United Kingdom)

^g QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^h WASHINGTON UNIVERSITY   (United States)

ⁱ KAROLINSKA INSTITUTE   (Sweden)

^j UPPSALA UNIVERSITY   (Sweden)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BODY HEIGHT; BODY MASS; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SIMILARITY; GENETIC VARIABILITY; GENOTYPE; HERITABILITY; HUMAN; HUMAN EXPERIMENT; LINKAGE ANALYSIS; MALE; MULTIFACTORIAL INHERITANCE; NORMAL HUMAN; NULL HYPOTHESIS; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SAMPLE SIZE; SIBLING RELATION; STUDY DESIGN;

EID: 84890248686     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.005     Document Type: Article

References (52)

1. Swinburn, B.A., Sacks, G., Hall, K.D., McPherson, K., Finegood, D.T., Moodie, M.L., and Gortmaker, S.L. (2011). The global obesity pandemic: shaped by global drivers and local environments. Lancet 378, 804-814
2. Schvey, N.A., Puhl, R.M., Levandoski, K.A., and Brownell, K.D. (2013). The influence of a defendant's body weight on perceptions of guilt. Int. J. Obes. (Lond.) 37, 1275-1281
3. Puhl, R.M., Peterson, J.L., and Luedicke, J. (2013). Weightbased victimization: bullying experiences of weight loss treatment-seeking youth. Pediatrics 131, e1-e9
4. Katz, D.A., McHorney, C.A., and Atkinson, R.L. (2000). Impact of obesity on health-related quality of life in patients with chronic illness. J. Gen. Intern. Med. 15, 789-796
5. Permutt, M.A.,Wasson, J., and Cox, N. (2005). Genetic epidemiology of diabetes. J. Clin. Invest. 115,1431-1439
6. Faeh, D., Braun, J., and Bopp, M. (2012). Body mass index vs cholesterol in cardiovascular disease risk prediction models. Arch. Intern. Med. 172, 1766-1768
7. Yang, J., Manolio, T.A., Pasquale, L.R., Boerwinkle, E., Caporaso, N., Cunningham, J.M., de Andrade, M., Feenstra, B., Feingold, E., Hayes, M.G., et al. (2011). Genome partitioning of genetic variation for complex traits using common SNPs. Nat. Genet. 43, 519-525
8. Yang, J., Benyamin, B., McEvoy, B.P., Gordon, S., Henders, A.K., Nyholt, D.R., Madden, P.A., Heath, A.C., Martin, N.G., Montgomery, G.W., et al. (2010). Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 42, 565-569
9. Lubke, G.H., Hottenga, J.J., Walters, R., Laurin, C., de Geus, E.J.C., Willemsen, G., Smit, J.H., Middeldorp, C.M., Penninx, B.W.J.H., Vink, J.M., and Boomsma, D.I. (2012). Estimating the genetic variance of major depressive disorder due to all single nucleotide polymorphisms. Biol. Psychiatry 72, 707-709
10. Yang, J., Lee, T., Kim, J., Cho, M.-C., Han, B.-G., Lee, J.-Y., Lee, H.-J., Cho, S., and Kim, H. (2013). Ubiquitous polygenicity of human complex traits: genome-wide analysis of 49 traits in Koreans. PLoS Genet. 9, e1003355
11. Elks, C.E., den Hoed, M., Zhao, J.H., Sharp, S.J.,Wareham, N.J., Loos, R.J.F., and Ong, K.K. (2012). Variability in the heritability of body mass index: a systematic review and meta-regression. Front. Endocrinol. (Lausanne) 3, 29
12. Silventoinen, K., Sammalisto, S., Perola, M., Boomsma, D.I., Cornes, B.K., Davis, C., Dunkel, L., De Lange, M., Harris, J.R., Hjelmborg, J.V.B., et al. (2003). Heritability of adult body height: a comparative study of twin cohorts in eight countries. Twin Res. 6, 399-408
13. Maes, H.H., Neale, M.C., and Eaves, L.J. (1997). Genetic and environmental factors in relative body weight and human adiposity. Behav. Genet. 27, 325-351
14. Visscher, P.M., Hill, W.G., and Wray, N.R. (2008). Heritability in the genomics era-concepts and misconceptions. Nat. Rev. Genet. 9, 255-266
15. Speliotes, E.K.,Willer, C.J., Berndt, S.I., Monda, K.L., Thorleifsson, G., Jackson, A.U., Lango Allen, H., Lindgren, C.M., Luan, J., Mägi, R., et al.; MAGIC; Procardis Consortium. (2010). Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat. Genet. 42, 937-948
16. Lango Allen, H., Estrada, K., Lettre, G., Berndt, S.I., Weedon, M.N., Rivadeneira, F., Willer, C.J., Jackson, A.U., Vedantam, S., Raychaudhuri, S., et al. (2010). Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832-838
17. Visscher, P.M., Medland, S.E., Ferreira, M.A., Morley, K.I., Zhu, G., Cornes, B.K., Montgomery, G.W., and Martin, N.G. (2006). Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genet. 2, e41
18. Rankinen, T., Zuberi, A., Chagnon, Y.C.,Weisnagel, S.J., Argyropoulos, G., Walts, B., Pèrusse, L., and Bouchard, C. (2006). The human obesity gene map: the 2005 update. Obesity (Silver Spring) 14, 529-644
19. Johnson, L., Luke, A., Adeyemo, A., Deng, H.W., Mitchell, B.D., Comuzzie, A.G., Cole, S.A., Blangero, J., Perola, M., and Teare, M.D. (2005). Meta-analysis of five genome-wide linkage studies for body mass index reveals significant evidence for linkage to chromosome 8p. Int. J. Obes. (Lond.) 29, 413-419
20. Medland, S.E., Nyholt, D.R., Painter, J.N., McEvoy, B.P., McRae, A.F., Zhu, G., Gordon, S.D., Ferreira, M.A., Wright, M.J., Henders, A.K., et al. (2009). Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am. J. Hum. Genet. 85, 750-755
21. Splansky, G.L., Corey, D., Yang, Q., Atwood, L.D., Cupples, L.A., Benjamin, E.J., D'Agostino, R.B., Sr., Fox, C.S., Larson, M.G., Murabito, J.M., et al. (2007). The Third Generation Cohort of the National Heart, Lung, and Blood Institute's Framingham Heart Study: design, recruitment, and initial examination. Am. J. Epidemiol. 165, 1328-1335
22. Lichtenstein, P., De Faire, U., Floderus, B., Svartengren, M., Svedberg, P., and Pedersen, N.L. (2002). The Swedish Twin Registry: a unique resource for clinical, epidemiological and genetic studies. J. Intern. Med. 252, 184-205
23. Magnusson, P.K.E., Almqvist, C., Rahman, I., Ganna, A., Viktorin, A., Walum, H., Halldner, L., Lundström, S., Ullén, F., Långström, N., et al. (2013). The Swedish Twin Registry: establishment of a biobank and other recent developments. Twin Res. Hum. Genet. 16, 317-329
24. Boomsma, D.I., de Geus, E.J.C., Vink, J.M., Stubbe, J.H., Distel, M.A., Hottenga, J.J., Posthuma, D., van Beijsterveldt, T.C., Hudziak, J.J., Bartels, M., and Willemsen, G. (2006). Netherlands Twin Register: from twins to twin families. Twin Res. Hum. Genet. 9, 849-857
25. Boomsma, D.I., Willemsen, G., Sullivan, P.F., Heutink, P., Meijer, P., Sondervan, D., Kluft, C., Smit, G., Nolen,W.A., Zitman, F.G., et al. (2008). Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects. Eur. J. Hum. Genet. 16, 335-342
26. Moayyeri, A., Hammond, C.J., Hart, D.J., and Spector, T.D. (2013). The UK Adult Twin Registry (TwinsUK Resource). Twin Res. Hum. Genet. 16, 144-149
27. Abecasis, G.R., Cherny, S.S., Cookson,W.O., and Cardon, L.R. (2002). Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30, 97-101
28. Yang, J., Lee, S.H., Goddard, M.E., and Visscher, P.M. (2011). GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 88, 76-82
29. Visscher, P.M., and Hopper, J.L. (2001). Power of regression and maximum likelihood methods to map QTL from sibpair and DZ twin data. Ann. Hum. Genet. 65, 583-601
30. Sham, P.C., and Purcell, S. (2001). Equivalence between Haseman- Elston and variance-components linkage analyses for sib pairs. Am. J. Hum. Genet. 68, 1527-1532
31. Benyamin, B., Perola, M., Cornes, B.K., Madden, P.A., Palotie, A., Nyholt, D.R., Montgomery, G.W., Peltonen, L., Martin, N.G., and Visscher, P.M. (2008).Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs. Eur. J. Hum. Genet. 16, 516-524
32. Churchill, G.A., and Doerge, R.W. (1994). Empirical threshold values for quantitative trait mapping. Genetics 138, 963-971
33. Visscher, P.M., Macgregor, S., Benyamin, B., Zhu, G., Gordon, S., Medland, S., Hill, W.G., Hottenga, J.-J., Willemsen, G., Boomsma, D.I., et al. (2007). Genome partitioning of genetic variation for height from 11,214 sibling pairs. Am. J. Hum. Genet. 81, 1104-1110.
34. Yang, J.,Weedon, M.N., Purcell, S., Lettre, G., Estrada, K.,Willer, C.J., Smith, A.V., Ingelsson, E., O'Connell, J.R., Mangino, M., et al.; GIANT Consortium. (2011). Genomic inflation factors under polygenic inheritance. Eur. J. Hum. Genet. 19, 807-812.
35. Lander, E., and Kruglyak, L. (1995). Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11, 241-247
36. McCarthy, M.I. (2010). Genomics, type 2 diabetes, and obesity. N. Engl. J. Med. 363, 2339-2350
37. Kunej, T., Skok, D.J., Zorc, M., Ogrinc, A., Michal, J.J., Kovac, M., and Jiang, Z. (2012). Obesity Gene Atlas in Mammals. Journal of Genomics 1, 44-55
38. Lewis, J.P., Palmer, N.D., Ellington, J.B., Divers, J., Ng, M.C., Lu, L., Langefeld, C.D., Freedman, B.I., and Bowden, D.W. (2010). Analysis of candidate genes on chromosome 20q12- 13.1 reveals evidence for BMI mediated association of PREX1 with type 2 diabetes in European Americans. Genomics 96, 211-219
39. Eichler, E.E., Flint, J., Gibson, G., Kong, A., Leal, S.M., Moore, J.H., and Nadeau, J.H. (2010). Missing heritability and strategies for finding the underlying causes of complex disease. Nat. Rev. Genet. 11, 446-450
40. Park, J.-H., Wacholder, S., Gail, M.H., Peters, U., Jacobs, K.B., Chanock, S.J., and Chatterjee, N. (2010). Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat. Genet. 42, 570-575
41. Stahl, E.A.,Wegmann, D., Trynka, G., Gutierrez-Achury, J., Do, R., Voight, B.F., Kraft, P., Chen, R., Kallberg, H.J., Kurreeman, F.A.S., et al.; Diabetes Genetics Replication and Meta-analysis Consortium; Myocardial Infarction Genetics Consortium.(2012). Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat. Genet. 44, 483-489
42. Chatterjee, N., Wheeler, B., Sampson, J., Hartge, P., Chanock, S.J., and Park, J.-H. (2013). Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies. Nat. Genet. 45, 400-405, e1-e3
43. Kong, A., Frigge, M.L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S.A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012). Rate of de novo mutations and the importance of father's age to disease risk. Nature 488, 471-475
44. Sanders, S.J., Murtha, M.T., Gupta, A.R., Murdoch, J.D., Raubeson, M.J., Willsey, A.J., Ercan-Sencicek, A.G., DiLullo, N.M., Parikshak, N.N., Stein, J.L., et al. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241
45. Evans, D.M., Gillespie, N.A., and Martin, N.G. (2002). Biometrical genetics. Biol. Psychol. 61, 33-51
46. Zuk, O., Hechter, E., Sunyaev, S.R., and Lander, E.S. (2012). The mystery of missing heritability: Genetic interactions create phantom heritability. Proc. Natl. Acad. Sci. USA 109, 1193-1198
47. Tenesa, A., and Haley, C.S. (2013). The heritability of human disease: estimation, uses and abuses. Nat. Rev. Genet. 14, 139-149
48. Zaitlen, N., Kraft, P., Patterson, N., Pasaniuc, B., Bhatia, G., Pollack, S., and Price, A.L. (2013). Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits. PLoS Genet. 9, e1003520
49. Yang, J., Ferreira, T., Morris, A.P., Medland, S.E., Madden, P.A., Heath, A.C., Martin, N.G., Montgomery, G.W.,Weedon, M.N., Loos, R.J., et al.; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium. (2012). Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet. 44, 369-375, S1-S3.
50. Lander, E.S., and Botstein, D. (1989). Mapping mendelian factors underlying quantitative traits using RFLP linkage maps. Genetics 121, 185-199
51. Risch, N., and Merikangas, K. (1996). The future of genetic studies of complex human diseases. Science 273, 1516-1517
52. Visscher, P., and Haley, C. (1996). Detection of putative quantitative trait loci in line crosses under infinitesimal genetic models. Theor. Appl. Genet. 93, 691-702