Objective: To assess the association between FEM1A gene polymorphisms and polycystic ovary syndrome (PCOS) in Chinese Han patients.
Methods: DNA sequencing was utilized to determine the genotypes of rs12460989 and rs8111933 loci of FEM1A gene in 120 PCOS patients and 155 healthy controls. Association between above polymorphisms and hyperandrogenism and insulin resistance (IR) was assessed.
Results: Genotypes TT, TG and GG of the rs12460989 locus, and GG, GC and CC of the rs8111933 locus were detected. There were significant differences in allelic frequencies (Chi square= 33.302, P< 0.01; Chi square = 11.252, P<0.01, respectively) for above loci between the two groups. Multifactorial logistic regression analysis indicated that TG+GG genotype of rs12460989 and GC+CC genotype of rs8111933 were included into the main effect model of hyperandrogenism, and GC+CC genotype of rs8111933 was included into the main effect model of IR.
Conclusion: Particular genotypes of the rs12460989 and rs8111933 loci of FEM1A gene are associated with PCOS in Chinese Han and may be a potential risk factor of hyperandrogenism. Polymorphisms of the rs8111933 locus of FEM1A gene may be a risk factor of IR.