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Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age, with a prevalence of 6–8%. Although the etiology of PCOS has been investigated extensively, the association between genetic predisposition and PCOS risk is largely unknown. In this study, we genotyped 63 SNPs in 10 genes among 361 PCOS patients and 331 healthy controls in a Chinese Han population. The following variant alleles were significantly associated with decreased PCOS risk:  ESR1  rs9340799 ( P  = 0.000),  PPARG  rs709154 ( P  = 0.013), and rs1151996 ( P  = 0.013),  HMGA2  rs2272046 ( P  = 0.000),  MTHFR  rs1801133 ( P  = 0.000). Accordingly, the following genotypes at various loci were associated with reduced PCOS risk: GA genotype at rs9340799 ( P  < 0.0001) in  ESR1 , TA genotype at rs709154( P  < 0.0001) in  PPARG  and CA genotype at rs2272046 ( P  < 0.0001) in  HMGA2 . Moreover, GA genotype at rs1999805 ( P  = 0.013) in  ESR1  and TT genotype at rs1801133 in  MTHFR  ( P  < 0.0001) correlated with elevated PCOS risk. Furthermore, haplotype analysis revealed significant differences in haplotype distributions of  CYP11A1, ESR2  and  PPARG  gene between cases and controls. In addition to confirming that  ESR1  rs9340799,  HMGA2  rs2272046 and  MTHFR  rs1801133 are related to the risk of PCOS, these findings also provide the first evidence that  PPARG  rs709154 and  ESR1  rs1999805 are significantly associated with PCOS risk in a Chinese population. Further functional studies are warranted to elucidate the underlying biological mechanisms.

frontiers in endocrinology

Variant Alleles of the ESR1, PPARG, HMGA2, and MTHFR Genes Are Associated With Polycystic Ovary Syndrome Risk in a Chinese Population: A Case-Control Study