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

• <i>Objective:</i> 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 <i>(MCF2L2)</i> gene and polycystic ovary syndrome (PCOS) in PCOS family trios. <i>Methods:</i> 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. <i>Results:</i> 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, χ² = 3.645, p = 0.056; rs684846, χ² = 1.429, p = 0.232, respectively). <i>Conclusions:</i> These results suggest that the genetic polymorphisms within <i>MCF2L2</i> 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 <i>MCF2L2</i> gene in the etiology of PCOS.

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