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.
Zheng
Qingmei
Q
Center for Reproductive Medicine, Provincial Hospital, Shandong University, Jinan, China.
Shi
Yuhua
Y
Yang
Zongli
Z
Xu
Xinghua
X
Wang
Laicheng
L
Xue
Fuzhong
F
Gu
Harvest F
HF
Chen
Zi-Jiang
ZJ
D044466:Asian People / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D033921:Vesicular Transport Proteins / Q000235:genetics*
C475146:MCFD2 protein, human; D033921:Vesicular Transport Proteins; D004247:DNA