Association between single nucleotide polymorphisms of sterol regulatory element binding protein-2 and liver X receptor α gene and risk of polycystic ovary syndrome in a Chinese Han population

Cell Biochem Biophys. 2014 Nov;70(2):1421-6. doi: 10.1007/s12013-014-0075-5.

Abstract

To investigate associations of single nucleotide polymorphisms (SNPs) rs2228314 of sterol regulatory element-binding protein-2 (SREBP-2) or rs11039155 of liver X receptor α (LXRα) with susceptibility to polycystic ovary syndrome (PCOS) in a Chinese Han population. SREBP-2 rs2228314 and LXRα rs11039155 polymorphisms were genotyped in patients with PCOS and age- and sex-matched PCOS-free controls from a Chinese Han population. A total of 605 patients with PCOS and 615 controls were recruited in this study. We found that GC and CC genotypes of rs2228314, and variant C, were associated with a significantly increased risk of PCOS. In addition, GA and AA genotypes of rs11039155, as well as variant A, were also associated with a significantly increased risk of PCOS. Our results showed that SREBP-2 rs2228314 G to C change and variant C genotype as well as LXRα rs11039155 G to A change and variant A may contribute to PCOS in Chinese Han population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / ethnology*
  • Case-Control Studies
  • Ethnicity / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Liver X Receptors
  • Male
  • Orphan Nuclear Receptors / genetics*
  • Polycystic Ovary Syndrome / genetics*
  • Polycystic Ovary Syndrome / metabolism
  • Polymorphism, Single Nucleotide*
  • Sterol Regulatory Element Binding Protein 2 / genetics*

Substances

  • Liver X Receptors
  • NR1H3 protein, human
  • Orphan Nuclear Receptors
  • Sterol Regulatory Element Binding Protein 2