THADA gene variants and polycystic ovary syndrome in a Hainan Chinese population

Background: Polycystic ovary syndrome (PCOS), the most common disorder in females, is characterized by a range of clinical complications and constitutes a potentially serious health threat worldwide. Previous genome-wide association studies have identified multiple susceptibility loci for PCOS; however, validation of these findings is still needed. Methods: We genotyped 10 single nucleotide polymorphisms in 285 Hainan Chinese PCOS patients and 299 control subjects and evaluated gene variants' association with risk of PCOS. Results: When adjusting for age and body mass index, we found two alleles in the THADA gene significantly associated with PCOS in our patient group: the "C" allele of rs13429458 as identified by dominant (OR, 1.44; 95% CI, 1.01-2.05; P = 0.043) and additive (OR, 1.35; 95% CI, 1.01-1.81; P = 0.043) genetic model. We also identified the "T" allele of rs12478601 as significant based on dominant model analysis (OR, 1.43; 95% CI, 1.01-2.01; P = 0.041). Conclusion: Our findings provide further evidence that certain genetic variations in THADA are associated with increased risk of PCOS among Hainan women.