Replication study of THADA rs13429458 variant with PCOS susceptibility and its related traits in Indian women

References

• Goodarzi MO, Dumesic DA, Chazenbalk G, et al. Polycystic ovary syndrome: etiology, pathogenesis and diagnosis. Nat Rev Endocrinol. 2011;7(4):219–231.
   PubMed Web of Science ®Google Scholar
• Sagvekar P, Dadachanji R, Patil K, et al. Pathomechanisms of polycystic ovary syndrome: Multidimensional approaches. Front Biosci (Elite Ed). 2018;10(3):384–422.
   PubMedGoogle Scholar
• Chen ZJ, Zhao H, He L, 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(1):55–59.
   PubMed Web of Science ®Google Scholar
• Shi Y, Zhao H, Shi Y, et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat Genet. 2012;44(9):1020–1025.
   PubMed Web of Science ®Google Scholar
• Hayes MG, Urbanek M, Ehrmann DA, et al. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun. 2015;6(1):1–12.
   Google Scholar
• Day FR, Hinds DA, Tung JY, et al. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat Commun. 2015;6(1):1–7.
   Google Scholar
• Day F, Karaderi T, Jones MR, et al. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. PLoS Genet. 2018;14(12):e1007813–e1007820.
   PubMed Web of Science ®Google Scholar
• Zhao Y, Qiao J. Ethnic differences in the phenotypic expression of polycystic ovary syndrome. Steroids. 2013;78(8):755–760.
   PubMed Web of Science ®Google Scholar
• Park S, Liu M, Zhang T. THADA -rs13429458 minor allele increases the risk of polycystic ovary syndrome in Asian, but not in Caucasian women: a systematic review and meta-analysis. Horm Metab Res. 2019;51(10):661–670.
   PubMed Web of Science ®Google Scholar
• Goodarzi MO, Jones MR, Li X, et al. Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts. J Med Genet. 2012;49(2):90–95.
   PubMed Web of Science ®Google Scholar
• Thomsen SK, Ceroni A, Van De Bunt M, et al. Systematic functional characterization of candidate causal genes for type 2 diabetes risk variants. Diabetes. 2016;65(12):3805–3811.
   PubMed Web of Science ®Google Scholar
• Simonis-Bik AM, Nijpels G, Van Haeften TW, et al. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic β-cell function. Diabetes. 2010;59(1):293–301.
   PubMed Web of Science ®Google Scholar
• Eriksen MB, Brusgaard K, Andersen M, et al. 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(1):39–42.
   PubMed Web of Science ®Google Scholar
• Ha L, Shi Y, Zhao J, et al. Association study between polycystic ovarian syndrome and the susceptibility genes polymorphisms in Hui Chinese women. PLoS One. 2015;10(5):e0126505–e0126510.
   PubMed Web of Science ®Google Scholar
• Cui L, Zhao H, Zhang B, et al. Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women. Hum Reprod. 2013;28(2):538–544.
   PubMed Web of Science ®Google Scholar
• Cui L, Li G, Zhong W, et al. Polycystic ovary syndrome susceptibility single nucleotide polymorphisms in women with a single PCOS clinical feature. Hum Reprod. 2015;30(3):732–736.
   PubMed Web of Science ®Google Scholar
• Vishnubotla DS, Shek AP, Madireddi S. Pooled genetic analysis identifies variants that confer enhanced susceptibility to PCOS in Indian ethnicity. Gene. 2020;752:144760–144765.
   PubMed Web of Science ®Google Scholar
• Shaikh N, Mukherjee A, Shah N, et al. Peroxisome proliferator activated receptor gamma gene variants influence susceptibility and insulin related traits in Indian women with polycystic ovary syndrome. J Assist Reprod Genet. 2013;30(7):913–921.
   PubMed Web of Science ®Google Scholar
• Zhao H, Xu X, Xing X, et al. Family-based analysis of susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Hum Reprod. 2012;27(1):294–298.
   PubMed Web of Science ®Google Scholar
• Dayeh T, Volkov P, Salö S, et al. Genome-wide DNA methylation analysis of human pancreatic islets from type 2 diabetic and non-diabetic donors identifies candidate genes that influence insulin secretion. PLoS Genet. 2014;10(3):e1004160.
   PubMed Web of Science ®Google Scholar
• Gupta V, Vinay DG, Rafiq S, et al. Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs. Diabetologia. 2012;55(2):349–357.
   PubMed Web of Science ®Google Scholar
• Bao S, Ren YC, Chen ZS, et al. THADA gene variants and polycystic ovary syndrome in a Hainan Chinese population. Int J Clin Exp Pathol. 2016;9(11):11883–11889.
   Web of Science ®Google Scholar
• Li X, Huang YH, Tian HQ, et al. Association study between polycystic ovary syndrome and THADA gene polymorphisms in xinjiang uygur women. Reprod Dev Med. 2017;1(2):80–83.
   Web of Science ®Google Scholar
• Bakhashab S, Ahmed N. Genotype based risk predictors for polycystic ovary syndrome in Western Saudi Arabia. Bioinformation. 2019;15(11):812–819.
   PubMed Web of Science ®Google Scholar
• Louwers YV, Stolk L, Uitterlinden AG, et al. Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome. J Clin Endocrinol Metab. 2013;98(12):2006–2012.
   PubMed Web of Science ®Google Scholar
• Lerchbaum E, Trummer O, Giuliani A, et al. 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(11):743–747.
   PubMed Web of Science ®Google Scholar
• Brower MA, Jones MR, Rotter JI, et al. Further investigation in europeans of susceptibility variants for polycystic ovary syndrome discovered in genomewide association studies of chinese individuals. J Clin Endocrinol Metab. 2015;100(1):E182–E186.
   PubMed Web of Science ®Google Scholar
• Tian Y, Li J, Su S, et al. PCOS-GWAS susceptibility variants in THADA, INSR, TOX3, and DENND1A are associated with metabolic syndrome or insulin resistance in women with PCOS. Front Endocrinol (Lausanne). 2020;11(April):1–8.
   PubMedGoogle Scholar
• Sun M, Sheng Y, Ma Z, et al. Correlation analysis between polycystic ovary syndrome susceptibility genes and metabolic phenotypes. Zhonghua Fu Chan Ke Za Zhi. 2014;49(6):441–445.
   PubMedGoogle Scholar
• Pau CT, Mosbruger T, Saxena R, et al. Phenotype and tissue expression as a function of genetic risk in polycystic ovary syndrome. PLoS One. 2017;12(1):e0168870.
   PubMed Web of Science ®Google Scholar