Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women

Human Reproduction

Volumn 28, Issue 2, 2013, Pages 538-544

  Cui, Linlin ^a,b,c,d   Zhao, Han ^a,b,c,d   Zhang, Bo ^e   Qu, Zhongyu ^a   Liu, Jiayin ^f   Liang, Xiaoyan ^g   Zhao, Xiaoming ^h   Zhao, Junli ⁱ   Sun, Yingpu ^j   Wang, Peng ^a,b,c,d   Li, Tao ^a,b,c,d   Shi, Yuhua ^a,b,c,d   Chen, Zi Jiang ^a,b,c,d  

^a SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

^b NATIONAL RESEARCH CENTER FOR ASSISTED REPRODUCTIVE TECHNOLOGY AND REPRODUCTIVE GENETICS   (China)

^c BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

^d Shandong Provincial Key Laboratory of Reproductive Medicine   (China)

^e The Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region   (China)

^f NANJING MEDICAL UNIVERSITY   (China)

^g SUN YAT SEN UNIVERSITY   (China)

^h SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

ⁱ AFFILIATED HOSPITAL OF NINGXIA MEDICAL UNIVERSITY   (China)

^j THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIVERSITY   (China)

more..

Author keywords

DENND1A; PCOS; phenotype; THADA

Indexed keywords

DENND1A PROTEIN; FOLLITROPIN; INSULIN; LOW DENSITY LIPOPROTEIN; LUTEINIZING HORMONE; PROTEIN; TESTOSTERONE; THADA PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGE; ALLELE; ANOVULATION; ARTICLE; BODY MASS; CHINESE; COHORT ANALYSIS; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE PREDISPOSITION; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERANDROGENISM; INSULIN BLOOD LEVEL; MAJOR CLINICAL STUDY; METABOLIC PARAMETERS; OVARY POLYCYSTIC DISEASE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84872503499     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des424     Document Type: Article

References (29)

1. Atger M, Misrahi M, Sar S, Le Flem L, Dessen P, Milgrom E. Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5′ non-coding regions. Mol Cell Endocrinol 1995; 111: 113-123.
2. Azziz R, Woods KS, Reyna R, Key TJ, Knochenhauer ES, Yildiz BO. The prevalence and features of the polycystic ovary syndrome in an unselected population. J Clin Endocrinol Metab 2004;89: 2745-2749.
3. Chen ZJ, Zhao H, He L, Shi Y, Qin Y, Li Z, You L, Zhao J, Liu J, Liang X et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat Genet 2011;43: 55-59.
4. de Groot PC, Dekkers OM, Romijn JA, Dieben SW, Helmerhorst FM. PCOS, coronary heart disease, stroke and the influence of obesity: a systematic review and meta-analysis. Hum Reprod Update 2011; 17: 495-500.
5. Dumesic DA, Abbott DH. Implications of polycystic ovary syndrome on oocyte development. Semin Reprod Med 2008;26: 53-61.
6. Eriksen MB, Brusgaard K, Andersen M, Tan Q, Altinok ML, Gaster M, Glintborg D. Association of polycystic ovary syndrome susceptibility single nucleotide polymorphism rs2479106 and PCOS in Caucasian patients with PCOS or hirsutism as referral diagnosis. Eur J Obstet Gynecol Reprod Biol 2012;163: 39-42.
7. Ferriman D, Gallwey JD. Clinical assessment of body hair growth in women. J Clin Endocrinol Metab 1961;21: 1440-1447.
8. Gleicher N, Weghofer A, Barad DH. The role of androgens in follicle maturation and ovulation induction: friend or foe of infertility treatment? Reprod Biol Endocrinol 2011;9: 116.
9. Goodarzi MO, Jones MR, Li X, Chua AK, Garcia OA, YD IC, Krauss RM, Rotter JI, Ankener W, Legro RS et al. Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts. J Med Genet 2012;49: 90-95.
10. Hatch R, Rosenfield RL, Kim MH, Tredway D. Hirsutism: implications, etiology, and management. Am J Obstet Gynecol 1981;140: 815-830.
11. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005;6: 95-108.
12. Legro RS, Gnatuk CL, Kunselman AR, Dunaif A. Changes in glucose tolerance over time in women with polycystic ovary syndrome: a controlled study. J Clin Endocrinol Metab 2005;90: 3236-3242.
13. Lerchbaum E, Trummer O, Giuliani A, Gruber HJ, Pieber TR, Obermayer-Pietsch B. Susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21, and 9q33.3 in a cohort of Caucasian women. Horm Metab Res 2011;43: 743-747.
14. Marat AL, McPherson PS. The connecdenn family, Rab35 guanine nucleotide exchange factors interfacing with the clathrin machinery. J Biol Chem 2010;285: 10627-10637.
15. Mather KJ, Kwan F, Corenblum B. Hyperinsulinemia in polycystic ovary syndrome correlates with increased cardiovascular risk independent of obesity. Fertil Steril 2000;73: 150-156.
16. Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC. Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985;28: 412-419.
17. Moran MD. Arguments for rejecting the sequential Bonferroni in ecological studies. Oikos 2003;100: 403-405.
18. Panidis D, Tziomalos K, Misichronis G, Papadakis E, Betsas G, Katsikis I, Macut D. Insulin resistance and endocrine characteristics of the different phenotypes of polycystic ovary syndrome: a prospective study. Hum Reprod 2012;27: 541-549.
19. Rahman NA, Rao CV. Recent progress in luteinizing hormone/human chorionic gonadotrophin hormone research. Mol Hum Reprod 2009; 15: 703-711.
20. Rippe V, Drieschner N, Meiboom M, Murua Escobar H, Bonk U, Belge G, Bullerdiek J. Identification of a gene rearranged by 2p21 aberrations in thyroid adenomas. Oncogene 2003;22: 6111-6114.
21. Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod 2004; 19: 41-47.
22. Saad MF, Knowler WC, Pettitt DJ, Nelson RG, Charles MA, Bennett PH. A two-step model for development of non-insulin-dependent diabetes. Am J Med 1991;90: 229-235.
23. Shi Y, Guo M, Yan J, Sun W, Zhang X, Geng L, Xu L, Chen Z. Analysis of clinical characteristics in large-scale Chinese women with polycystic ovary syndrome. Neuro Endocrinol Lett 2007;28: 807-810.
24. Simonis-Bik AM, Nijpels G, van Haeften TW, Houwing-Duistermaat JJ, Boomsma DI, Reiling E, van Hove EC, Diamant M, Kramer MH, Heine RJ et al. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function. Diabetes 2010; 59: 293-301.
25. Vink JM, Sadrzadeh S, Lambalk CB, Boomsma DI. Heritability of polycystic ovary syndrome in a Dutch twin-family study. J Clin Endocrinol Metab 2006;91: 2100-2104.
26. Welt CK, Styrkarsdottir U, Ehrmann DA, Thorleifsson G, Arason G, Gudmundsson JA, Ober C, Rosenfield RL, Saxena R, Thorsteinsdottir U et al. Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry. J Clin Endocrinol Metab 2012;97: E1342-1347.
27. Yilmaz M, Isaoglu U, Delibas IB, Kadanali S. Anthropometric, clinical and laboratory comparison of four phenotypes of polycystic ovary syndrome based on Rotterdam criteria. J Obstet Gynaecol Res 2011; 37: 1020-1026.
28. Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008; 40: 638-645.
29. Zhu JQ, Zhu L, Liang XW, Xing FQ, Schatten H, Sun QY. Demethylation of LHR in dehydroepiandrosterone-induced mouse model of polycystic ovary syndrome. Mol Hum Reprod 2010;16: 260-266.