Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction

Journal of Assisted Reproduction and Genetics

Volumn 32, Issue 4, 2015, Pages 495-508

  Butler, Merlin G ^a   McGuire, Austen ^a   Manzardo, Ann M ^a  

^a UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

Author keywords

Gene symbols; High resolution chromosome ideogram; Human infertility and reproduction; Obesity; Obesity susceptibility genes

Indexed keywords

ADULT; FEMALE; GENETICS; HUMAN; INFERTILITY; MALE; MUTATION; OBESITY; PHENOTYPE; REPRODUCTION;

ADULT; FEMALE; HUMANS; INFERTILITY; MALE; MUTATION; OBESITY; PHENOTYPE; REPRODUCTION;

EID: 84939945347     PISSN: 10580468     EISSN: 15737330     Source Type: Journal    
DOI: 10.1007/s10815-014-0411-0     Document Type: Article

References (75)

1. Kelly T, Yang W, Chen CS, Reynolds K, He J. Global burden of obesity in 2005 and projections to 2030. Int J Obes (Lond). 2008;32:1431–7.
2. de Onis M, Blossner M, Borghi E. Global prevalence and trends of overweight and obesity among preschool children. Am J Clin Nutr. 2010;92:1257–64.
3. Marsh CA, Hecker E. Maternal obesity and adverse reproductive outcomes: reducing the risk. Obstet Gynecol Surv. 2014;69:622–8.
4. Ogden CL, Carroll MD, Curtin LR, McDowell MA, Tabak CJ, Flegal KM. Prevalence of overweight and obesity in the United States, 1999–2004. JAMA. 2006;295:1549–55.
5. Pandey S, Pandey S, Maheshwari A, Bhattacharya S. The impact of female obesity on the outcome of fertility treatment. J Hum Reprod Sci. 2010;3:62–7.
6. Silber SJ, Barbey N. Scientific molecular basis for treatment of reproductive failure in the human: an insight into the future. Biochim Biophys Acta. 1822;2012:1981–96.
7. Flegal KM, Graubard BI, Williamson DF, Gail MH. Cause-specific excess deaths associated with underweight, overweight, and obesity. JAMA. 2007;298:2028–37.
8. Jungheim ES, Travieso JL, Carson KR, Moley KH. Obesity and reproductive function. Obstet Gynecol Clin North Am. 2012;39:479–93.
9. Kort JD, Winget C, Kim SH, Lathi RB. A retrospective cohort study to evaluate the impact of meaningful weight loss on fertility outcomes in an overweight population with infertility. Fertil Steril. 2014;101:1400–3.
10. Guelinckx I, Devlieger R, Vansant G. Reproductive outcome after bariatric surgery: a critical review. Hum Reprod Update. 2009;15:189–201.
11. Peng CY, Xie HJ, Guo ZF, Nie YL, Chen J, Zhou JM, et al. The association between androgen receptor gene CAG polymorphism and polycystic ovary syndrome: a case–control study and meta-analysis. J Assist Reprod Genet. 2014;31:1211–9.
12. Reilly JJ, Armstrong J, Dorosty AR, Emmett PM, Ness A, Rogers I, et al. Early life risk factors for obesity in childhood: cohort study. BMJ. 2005;330:1357.
13. Hjelmborg J, Fagnani C, Silventoinen K, McGue M, Korkeila M, Christensen K, et al. Genetic influences on growth traits of BMI: a longitudinal study of adult twins. Obesity (Silver Spring). 2008;16:847–52.
14. Carnell S, Haworth CM, Plomin R, Wardle J. Genetic influence on appetite in children. Int J Obes (Lond). 2008;32:1468–73.
15. Mustelin L, Latvala A, Pietilainen KH, Piirila P, Sovijarvi AR, Kujala UM, et al. Associations between sports participation, cardiorespiratory fitness, and adiposity in young adult twins. J Appl Physiol. 2011;110:681–6.
16. Bouchard C, Tremblay A, Nadeau A, Despres JP, Theriault G, Boulay MR, et al. Genetic effect in resting and exercise metabolic rates. Metabolism. 1989;38:364–70.
17. Cheung WW, Mao P. Recent advances in obesity: genetics and beyond. ISRN Endocrinol. 2012; 536905.
18. Morton GJ, Cummings DE, Baskin DG, Barsh GS, Schwartz MW. Central nervous system control of food intake and body weight. Nature. 2006;443:289–95.
19. Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, et al. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature. 2010;463:666–70.
20. Choquet H, Meyre D. Genetics of obesity: what have we learned? Curr Genomics. 2011;12:169–79.
21. Choquet H, Meyre D. Molecular basis of obesity: current status and future prospects. Curr Genomics. 2011;12:154–68.
22. Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, et al. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med. 2007;356:237–47.
23. Govaerts C, Srinivasan S, Shapiro A, Zhang S, Picard F, Clement K, et al. Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function. Peptides. 2005;26:1909–19.
24. Rankinen T, Zuberi A, Chagnon YC, Weisnagel SJ, Argyropoulos G, Walts B, et al. The human obesity gene map: the 2005 update. Obesity (Silver Spring). 2006;14:529–644.
25. Butler MG. Prader-Willi syndrome: obesity due to genomic imprinting. Curr Genomics. 2011;12(3):204–15.
26. Herrera BM, Keildson S, Lindgren CM. Genetics and epigenetics of obesity. Maturitas. 2011;69:41–9.
27. Waterland RA, Jirtle RL. Early nutrition, epigenetic changes at transposons and imprinted genes, and enhanced susceptibility to adult chronic diseases. Nutrition. 2004;20:63–8.
28. Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet. 2006;7:85–97.
29. Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, et al. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med. 2010;12:641–7.
30. Dasouki MJ, Youngs EL, Hovanes K. Structural chromosome abnormalities associated with obesity: report of four new subjects and review of literature. Curr Genomics. 2011;12:190–203.
31. Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, et al. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet. 2008;40:768–75.
32. Layman LC. Human gene mutations causing infertility. J Med Genet. 2002;39:153–61.
33. Okada Y, Tateishi K, Zhang Y. Histone demethylase JHDM2A is involved in male infertility and obesity. J Androl. 2010;31:75–8.
34. Kosova G, Scott NM, Niederberger C, Prins GS, Ober C. Genome-wide association study identifies candidate genes for male fertility traits in humans. Am J Hum Genet. 2012;90:950–61.
35. El Inati E, Muller J, Viville S. Autosomal mutations and human spermatogenic failure. Biochim Biophys Acta. 1822;2012:1873–9.
36. Qiu R, Chen C, Jiang H, Shen L, Wu M, Liu C. Large genomic region free of GWAS-based common variants contains fertility-related genes. PLoS One. 2013;8:e61917.
37. Ferfouri F, Boitrelle F, Ghout I, Albert M, Molina Gomes D, Wainer R, et al. A genome-wide DNA methylation study in azoospermia. Andrology. 2013;1:815–21.
38. Albertsen HM, Chettier R, Farrington P, Ward K. Genome-wide association study link novel loci to endometriosis. PLoS One. 2013;8:e58257.
39. Fragouli E, Lalioti MD, Wells D. The transcriptome of follicular cells: biological insights and clinical implications for the treatment of infertility. Hum Reprod Update. 2014;20:1–11.
40. Bulun SE. Aromatase and estrogen receptor alpha deficiency. Fertil Steril. 2014;101:323–9.
41. Greene AD, Patounakis G, Segars JH. Genetic associations with diminished ovarian reserve: a systematic review of the literature. J Assist Reprod Genet. 2014;31:935–46.
42. Qin Y, Ji J, Du G, Wu W, Dai J, Hu Z, et al. Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk. Hum Reprod. 2014;29:860–6.
43. Rahmioglu N, Nyholt DR, Morris AP, Missmer SA, Montgomery GW, Zondervan KT. Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets. Hum Reprod Update. 2014;20:702–16.
44. Hu Z, Li Z, Yu J, Tong C, Lin Y, Guo X, et al. Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men. Nat Commun. 2014;5:3857.
45. D’Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, et al. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Eur J Med Genet. 2006;49:451–60.
46. Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Genevieve D, et al. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. J Med Genet. 2002;39:594–6.
47. Gul D, Ogur G, Tunca Y, Ozcan O. Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). Am J Med Genet. 2002;107:70–1.
48. van den Berg L, de Waal HD, Han JC, Ylstra B, Eijk P, Nesterova M, et al. Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study. Am J Med Genet A. 2010;152A:630–7.
49. Cody JD, Reveles XT, Hale DE, Lehman D, Coon H, Leach RJ. Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q. Hum Genet. 1999;105:424–7.
50. Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, et al. Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. Am J Med Genet. 2002;113:167–72.
51. D’Angelo CS, Jehee FS, Koiffmann CP. An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior. Am J Med Genet A. 2007;143A:1928–32.
52. Hirst M, Grewal P, Flannery A, Slatter R, Maher E, Barton D, et al. Two new cases of FMR1 deletion associated with mental impairment. Am J Hum Genet. 1995;56:67–74.
53. Meyre D, Lecoeur C, Delplanque J, Francke S, Vatin V, Durand E, et al. A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2. Diabetes. 2004;53:803–11.
54. Stone S, Abkevich V, Hunt SC, Gutin A, Russell DL, Neff CD, et al. A major predisposition locus for severe obesity, at 4p15-p14. Am J Hum Genet. 2002;70:1459–68.
55. Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet. 2009;41:25–34.
56. Thorleifsson G, Walters GB, Gudbjartsson DF, Steinthorsdottir V, Sulem P, Helgadottir A, et al. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet. 2009;41:18–24.
57. Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet. 2010;42:937–48.
58. Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, et al. Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet. 2009;5:e1000508.
59. Chambers JC, Elliott P, Zabaneh D, Zhang W, Li Y, Froguel P, et al. Common genetic variation near MC4R is associated with waist circumference and insulin resistance. Nat Genet. 2008;40:716–8.
60. Meyre D, Delplanque J, Chevre JC, Lecoeur C, Lobbens S, Gallina S, et al. Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nat Genet. 2009;41:157–9.
61. Scherag A, Dina C, Hinney A, et al. Two new loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genet. 2010;6:e1000916.
62. Montgomery GW, Zondervan KT, Nyholt DR. The future for genetic studies in reproduction. Mole Hum Reprod. 2014;20(1):1–14.
63. Gesink Law DC, Maclehose RF, Longnecker MP. Obesity and time to pregnancy. Hum Reprod. 2007;22:414–20.
64. Wise LA, Rothman KJ, Mikkelsen EM, Sorensen HT, Riis A, Hatch EE. An internet-based prospective study of body size and time-to-pregnancy. Hum Reprod. 2010;25:253–64.
65. Rich-Edwards JW, Goldman MB, Willett WC, Hunter DJ, Stampfer MJ, Colditz GA, et al. Adolescent body mass index and infertility caused by ovulatory disorder. Am J Obstet Gynecol. 1994;171:171–7.
66. Metwally M, Li TC, Ledger WL. The impact of obesity on female reproductive function. Obes Rev. 2007;8:515–23.
67. Gil-Campos M, Canete RR, Gil A. Adiponectin, the missing link in insulin resistance and obesity. Clin Nutr. 2004;23:963–74.
68. Brannian JD, Hansen KA. Leptin and ovarian folliculogenesis: implications for ovulation induction and ART outcomes. Semin Reprod Med. 2002;20:103–12.
69. Moschos S, Chan JL, Mantzoros CS. Leptin and reproduction: a review. Fertil Steril. 2002;77:433–44.
70. Bergh C, Carlsson B, Olsson JH, Selleskog U, Hillensjo T. Regulation of androgen production in cultured human thecal cells by insulin-like growth factor I and insulin. Fertil Steril. 1993;59:323–31.
71. Balen AH, Platteau P, Andersen AN, Devroey P, Sorensen P, Helmgaard L, et al. The influence of body weight on response to ovulation induction with gonadotrophins in 335 women with World Health Organization group II anovulatory infertility. BJOG. 2006;113:1195–202.
72. Zaadstra BM, Seidell JC, Van Noord PA, te Velde ER, Habbema JD, Vrieswijk B, et al. Fat and female fecundity: prospective study of effect of body fat distribution on conception rates. BMJ. 1993;306:484–7.
73. Maheshwari A, Stofberg L, Bhattacharya S. Effect of overweight and obesity on assisted reproductive technology–a systematic review. Hum Reprod Update. 2007;13:433–44.
74. Pasquali R, Gambineri A. Polycystic ovary syndrome: a multifaceted disease from adolescence to adult age. Ann N Y Acad Sci. 2006;1092:158–74.
75. Ehrmann DA. Polycystic ovary syndrome. N Engl J Med. 2005;352:1223–36.