Association of AQP8 in women with PCOS

作者：Li, Yang; Liu, Hongbin; Zhao, Han; Xu, Chengyan; Zhao, Yueran; Ma, Jinlong^*; Chen, Zi-Jiang

来源：Reproductive BioMedicine Online, 2013, 27(4): 419-422.

DOI：10.1016/j.rbmo.2013.07.001

• aquaporin
• AQP8
• polycystic ovary syndrome
• single-nucleotide polymorphism
• association study
• PCOS phenotype

Aquaporin 8 (AQP8) has been identified as a novel gene participating in female reproductive physiology. The present study was designed to determine whether an association exists between AQP8 and polycystic ovary syndrome (PCOS). This study recruited 192 women with PCOS and 191 controls. High-resolution melting and sequencing were employed to investigate the genotypes of six single-nucleotide polymorphisms within AQP8 (rs7198838, rs1076973, rs1076974, rs2287797, rs2287798 and rs2287796). A significant difference was found in rs2287798 between PCOS cases and controls (P = 0.0007). Possible associations between AQP8 genotypes and three different phenotypes of this syndrome were investigated. The results support the earlier evidence for a possible role of AQP8 in the pathogenesis of PCOS. Further studies are still needed to elucidate its functional role.

• 出版日期2013-10
• 单位山东大学