Evaluating reported candidate gene associations with polycystic ovary syndrome

Fertility and Sterility

Volumn 99, Issue 6, 2013, Pages 1774-1778

  Pau, Cindy ^a   Saxena, Richa ^a   Welt, Corrine Kolka ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Candidate genes; genome wide association

Indexed keywords

ADIPONECTIN; FBN3 PROTEIN; POMC PROTEIN; PROTEIN; SEX HORMONE BINDING GLOBULIN; STEROID 5ALPHA REDUCTASE 1; UNCLASSIFIED DRUG;

ADULT; AGE; ANTHROPOMETRIC PARAMETERS; ARTICLE; BODY MASS; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; META ANALYSIS; OVARY POLYCYSTIC DISEASE; PRIORITY JOURNAL; REPRODUCTION; WAIST CIRCUMFERENCE;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; HUMANS; MIDDLE AGED; POLYCYSTIC OVARY SYNDROME; YOUNG ADULT;

EID: 84876998427     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2012.12.033     Document Type: Article

References (42)

1. M. Asuncion, R.M. Calvo, J.L. San Millan, J. Sancho, S. Avila, and H.F. Escobar-Morreale A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain J Clin Endocrinol Metab 85 2000 2434 2438
2. R. Azziz, K.S. Woods, R. Reyna, T.J. Key, E.S. Knochenhauer, and B.O. Yildiz The prevalence and features of the polycystic ovary syndrome in an unselected population J Clin Endocrinol Metab 89 2004 2745 2749
3. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS) Hum Reprod 19 2004 41 47
4. D.A. Ehrmann, R.B. Barnes, R.L. Rosenfield, M.K. Cavaghan, and J. Imperial Prevalence of impaired glucose tolerance and diabetes in women with polycystic ovary syndrome Diabetes Care 22 1999 141 146
5. R.S. Legro, A.R. Kunselman, W.C. Dodson, and A. Dunaif Prevalence and predictors of risk for type 2 diabetes mellitus and impaired glucose tolerance in polycystic ovary syndrome: a prospective, controlled study in 254 affected women J Clin Endocrinol Metab 84 1999 165 169
6. J.M. Vink, S. Sadrzadeh, C.B. Lambalk, and D.I. Boomsma Heritability of polycystic ovary syndrome (PCOS) in a Dutch twin-family study J Clin Endocrinol Metab 91 2005 2100 2104
7. C.K. Welt, U. Styrkarsdottir, D.A. Ehrmann, G. Thorleifsson, G. Arason, and J.A. Gudmundsson Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry J Clin Endocrinol Metab 97 2012 E1342 E1347
8. M.O. Goodarzi, M.R. Jones, X. Li, A.K. Chua, O.A. Garcia, and Y.D. Chen Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts J Med Genet 49 2012 90 95
9. Z.J. Chen, H. Zhao, L. He, Y. Shi, Y. Qin, and Y. Shi Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3 Nat Genet 43 2011 55 59
10. A.T. Hattersley, and M.I. McCarthy What makes a good genetic association study? Lancet 366 2005 1315 1323
11. C.K. Welt, G. Arason, J.A. Gudmundsson, J.M. Adams, H. Palsdottir, and G. Gudlaugsdottir Defining constant versus variable phenotypic features of women with polycystic ovary syndrome using different ethnic groups and populations J Clin Endocrinol Metab 91 2006 4361 4368
12. J.K. Zawadzki, and A. Dunaif Diagnostic criteria for polycystic ovary syndrome: towards a rational approach A. Dunaif, J.R. Givens, F.P. Haseltine, G.R. Merriam, Polycystic ovary syndrome 1992 Blackwell Scientific Boston 377 384
13. D. Ferriman, and J.D. Gallwey Clinical assessment of body hair growth in women J Clin Endocrinol Metab 21 1961 1440 1447
14. R. Saxena, and C.K. Welt Polycystic ovary syndrome is not associated with genetic variants that mark risk of type 2 diabetes Acta Diabetol 2012 Mar 3 [Epub ahead of print.]
15. A.L. Price, J. Butler, N. Patterson, C. Capelli, V.L. Pascali, and F. Scarnicci Discerning the ancestry of European Americans in genetic association studies PLoS Genet 4 2008 e236
16. A.L. Price, N. Patterson, F. Yu, D.R. Cox, A. Waliszewska, and G.J. McDonald A genomewide admixture map for Latino populations Am J Hum Genet 80 2007 1024 1036
17. M.W. Smith, N. Patterson, J.A. Lautenberger, A.L. Truelove, G.J. McDonald, and A. Waliszewska A high-density admixture map for disease gene discovery in African Americans Am J Hum Genet 74 2004 1001 1013
18. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, and D. Bender PLINK: a tool set for whole-genome association and population-based linkage analyses Am J Hum Genet 81 2007 559 575
19. N. Mantel, and W. Haenszel Statistical aspects of the analysis of data from retrospective studies of disease J Natl Cancer Inst 22 1959 719 748
20. K.G. Ewens, D.R. Stewart, W. Ankener, M. Urbanek, J.M. McAllister, and C. Chen Family-based analysis of candidate genes for polycystic ovary syndrome J Clin Endocrinol Metab 95 2010 2306 2315
21. E.P. Wickham III, K.G. Ewens, R.S. Legro, A. Dunaif, J.E. Nestler, and J.F. Strauss III Polymorphisms in the SHBG gene influence serum SHBG levels in women with polycystic ovary syndrome J Clin Endocrinol Metab 96 2011 E719 E727
22. E.L. Ding, Y. Song, J.E. Manson, D.J. Hunter, C.C. Lee, and N. Rifai Sex hormone-binding globulin and risk of type 2 diabetes in women and men N Engl J Med 361 2009 1152 1163
23. L. Sabatier, N. Miosge, D. Hubmacher, G. Lin, E.C. Davis, and D.P. Reinhardt Fibrillin-3 expression in human development Matrix Biol 30 2011 43 52
24. M. Urbanek, S. Sam, R.S. Legro, and A. Dunaif Identification of a PCOS susceptibility variant in fibrillin-3 and association with a metabolic phenotype J Clin Endocrinol Metab 92 2007 4191 4198
25. R. Xiao, and M. Boehnke Quantifying and correcting for the winner's curse in genetic association studies Genet Epidemiol 33 2009 453 462
26. M. Graupp, E. Wehr, N. Schweighofer, T.R. Pieber, and B. Obermayer-Pietsch Association of genetic variants in the two isoforms of 5alpha-reductase, SRD5A1 and SRD5A2, in lean patients with polycystic ovary syndrome Eur J Obstet Gynecol Reprod Biol 157 2011 175 179
27. N. Xita, I. Georgiou, A. Chatzikyriakidou, M. Vounatsou, G.P. Papassotiriou, and I. Papassotiriou Effect of adiponectin gene polymorphisms on circulating adiponectin and insulin resistance indexes in women with polycystic ovary syndrome Clin Chem 51 2005 416 423
28. F. Ranjzad, T. Mahmoudi, S.A. Irani, A. Mahban, A. Nikzamir, and M. Vahedi common variant in the adiponectin gene and polycystic ovary syndrome risk Mol Biol Rep 39 2012 2313 2319
29. H.F. Escobar-Morreale, G. Villuendas, J.I. Botella-Carretero, F. Alvarez-Blasco, R. Sanchon, and M. Luque-Ramirez Adiponectin and resistin in PCOS: a clinical, biochemical and molecular genetic study Hum Reprod 21 2006 2257 2265
30. J.L. San Millan, M. Corton, G. Villuendas, J. Sancho, B. Peral, and H.F. Escobar-Morreale Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity J Clin Endocrinol Metab 89 2004 2640 2646
31. M.O. Goodarzi, M.R. Jones, Y.D. Chen, and R. Azziz First evidence of genetic association between AKT2 and polycystic ovary syndrome Diabetes Care 31 2008 2284 2287
32. M.O. Goodarzi, N.A. Shah, H.J. Antoine, M. Pall, X. Guo, and R. Azziz Variants in the 5alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women J Clin Endocrinol Metab 91 2006 4085 4091
33. M.O. Goodarzi, H.J. Antoine, M. Pall, J. Cui, X. Guo, and R. Azziz Preliminary evidence of glycogen synthase kinase 3 beta as a genetic determinant of polycystic ovary syndrome Fertil Steril 87 2007 1473 1476
34. E.J. Lee, B. Oh, J.Y. Lee, K. Kimm, J.M. Park, and K.H. Baek Association study between single nucleotide polymorphisms in the VEGF gene and polycystic ovary syndrome Fertil Steril 89 2008 1751 1759
35. M.E. Kevenaar, A.P. Themmen, A.J. van Kerkwijk, O. Valkenburg, A.G. Uitterlinden, and F.H. de Jong Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome Hum Reprod 24 2009 241 249
36. P. Mutharasan, E. Galdones, B.P. Bernabe, O.A. Garcia, N. Jafari, and L.D. Shea Evidence for association of chromosome 2p16.3 polycystic ovary syndrome (PCOS) susceptibility locus in affected women of European ancestry Endocr Rev 32 2011 P1 P301
37. M.O. Goodarzi, J.F. Maher, J. Cui, X. Guo, K.D. Taylor, and R. Azziz FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome Hum Reprod 23 2008 2842 2849
38. M.O. Goodarzi, N. Xu, J. Cui, X. Guo, Y.I. Chen, and R. Azziz Small glutamine-rich tetratricopeptide repeat-containing protein alpha SGTA, a candidate gene for polycystic ovary syndrome Hum Reprod 23 2008 1214 1219
39. M. Urbanek, G. Nampiaparampil, J. D'Souza, E. Sefton, C. Ackerman, and R.S. Legro The role of genetic variation in the lamin a/c gene in the etiology of polycystic ovary syndrome J Clin Endocrinol Metab 94 2009 2665 2669
40. M.R. Jones, R. Mathur, J. Cui, X. Guo, R. Azziz, and M.O. Goodarzi Independent confirmation of association between metabolic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta-hydroxysteroid dehydrogenase gene J Clin Endocrinol Metab 94 2009 5034 5038
41. M.R. Jones, S.G. Wilson, B.H. Mullin, R. Mead, F. Dudbridge, and G.F. Watts Polymorphism in postinsulin receptor signaling pathway is not associated with polycystic ovary syndrome Fertil Steril 90 2008 2298 2303
42. S. Purcell, S.S. Cherny, and P.C. Sham Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits Bioinformatics 19 2003 149 150