Endocrine Abstracts

Objective: Insulin resistance is a core feature of polycystic ovary syndrome (PCOS), thus, it may be the common link between PCOS and type 2 diabetes (T2DM).

Although the etiology of PCOS has not been elucidated, a number of studies have suggested that genetic factors may play important roles in its etiology and pathogenesis. If PCOS and T2DM share a common genetic background, genetic variants determining the risk of T2DM may also be associated with PCOS. Recently, genome-wide association studies (GWAS) have reported a number of SNPs with reproducible associations and susceptibilities to T2DM, which were also replicated in Koreans. Thus, we compared the genotype distributions of the diabetogenic genes, identified in GWAS, between PCOS patients and age-matched controls in Korean women.

Measurements: Genotyping was performed on DNA samples from 377 PCOS patients and 386 age-matched controls.

Results: Genotype distributions for all investigated SNPs were in Hardy–Weinberg equilibrium in controls. None of the 12 SNPs in the six genes (KCNJ11, TCF7L2, SLC30A8, HHEX, FTO and CDKAL1), discovered in GWAS, were found to be associated with PCOS. For further analysis, PCOS patients were divided into two or three subgroups according to its genotype, and we also assessed the associations between the genotypes and insulin resistance or insulin secretary capacity. No SNPs were significantly associated with HOMA-IR, HOMA β-cell (%), or 75 g OGTT 2 h insulin levels in PCOS patients, neither other serum hormonal and metabolic markers such as androgen or glucose levels.

Conclusions: Our results suggest that the most of type 2 diabetes associated loci identified in GWAS are not associated with PCOS. Although our data do not demonstrate an association between diabetogenic SNPs discovered in GWAS and PCOS, the relationship between T2DM susceptibility gene and PCOS remains to be investigated because both diseases share a common link, insulin resistance.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This work was supported, however funding details unavailable.