Family-based association study of the MCF2L2 gene and polycystic ovary syndrome.

OBJECTIVE

The aim of the study was to determine the association between three single nucleotide polymorphism (SNP) variants (rs35368790, rs35069869 and rs684846) of the MCF2 cell line-derived transforming sequence-like 2 (MCF2L2) gene and polycystic ovary syndrome (PCOS) in PCOS family trios.

METHODS

Genotyping was done by TaqMan assay that incorporates minor groove-binding probe technology for allelic discrimination. One hundred and fifty-two unrelated PCOS probands and their biological parents were recruited. All subjects were of Han Chinese origin and from Shandong Province.

RESULTS

The transmission disequilibrium test (TDT) for allelic association demonstrated that a weak association was detected in SNP rs35368790 with p = 0.008. However, we found no significant transmission distortion of the other two SNPs (rs35069869, chi(2) = 3.645, p = 0.056; rs684846, chi(2) = 1.429, p = 0.232, respectively).

CONCLUSIONS

These results suggest that the genetic polymorphisms within MCF2L2 are likely to confer an increased susceptibility to PCOS in the Chinese population. Our present data may provide a basis for further studies of the role of the MCF2L2 gene in the etiology of PCOS.