Genetic variants of cyclin-dependent kinase 5 regulatory subunit associated protein 1-like 1 and transcription factor 7-like 2 are not associated with polycystic ovary syndrome in Chinese women

Abstract

Polycystic ovary syndrome (PCOS) is a common disorder in women that shares many genetic features with type 2 diabetes mellitus. Novel risk loci for type 2 diabetes, single nucleotide polymorphism (SNP) rs7756992 in cyclin-dependent kinase 5 (CDK5) regulatory subunit associated protein 1-like 1 (CDKAL1), rs290487 and rs11196218 in transcription factor 7-like 2 (TCF7L2), were recently identified. The aim of this study was to test whether these loci are also associated with PCOS. We recruited 826 patients with PCOS and 620 healthy controls for case–control analysis. The genotypes of these three SNPs were identified. The relationships between PCOS-related clinical endocrine and metabolic features and genotypes were also analyzed. Genotype distribution of these three loci in case and control groups showed no deviation from the Hardy–Weinberg equilibrium. No significant differences in genotype and allele frequencies were found between patients with PCOS and healthy controls. No associations were observed between genotypes of the three SNPs and the clinical endocrine and metabolic features of patients with PCOS in case group after adjustment for body mass index. We concluded that rs7756992 in CDKAL1, rs290487 and rs11196218 in TCF7L2 have no associations with PCOS or PCOS-related clinical features.