Phosphatidylinositol 3-kinase p85α regulatory subunit gene Met326Ile polymorphism in women with polycystic ovary syndrome

Jin Ju Kim, Young Min Choi, Min A. Hong, Seung Sik Hwang, Sang Ho Yoon, Soo Jin Chae, Byung Chul Jee, Seung Yup Ku, Jung Gu Kim, Shin Yong Moon

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

BACKGROUNDInsulin resistance is a core feature of polycystic ovary syndrome (PCOS). Phosphatidylinositol (PI) 3-kinase is an important enzyme in the early insulin signaling cascade and plays a key role in insulin-mediated glucose transport. In its regulatory subunit, p85α, there is a common amino acid substitution (the Met326Ile polymorphism), and this amino acid may be crucial for the function of the p85α regulatory subunit and PI3-kinase. METHODSAnalysis of the Met326Ile polymorphism was carried out on DNA samples from 256 PCOS patients and 283 controls. Clinical and biochemical profiles of participants were also compared.RESULTSThe genotype distribution of the Met326Ile polymorphism in the PCOS group was not different from that of the controls (Met326Met/Met326Ile/Ile326Ile rates were 73.4/23.4/3.2 and 70.3/26.1/3.6 for the PCOS and control groups, respectively, P = 0.72). The PCOS group was divided into two subgroups according to the presence of the variant 326Ile allele. Compared with those carrying at least one variant 326Ile allele, carriers with the Met326Met genotype had higher serum 17-hydroxyprogesterone (17-OHP) 1.1 [95 confidence interval (CI) 1.1-1.3] ng/ml in those with the Met326Met genotype versus 0.8 (95 CI 0.7-1.0) ng/ml in those with Ile326Ile and Met326Ile genotypes, P = 0.0073 and free testosterone levels [1.2 (95 CI 1.1-1.4) pg/ml for Met326Met genotype versus 0.9 (95 CI 0.6-1.3) pg/ml for Ile326Ile and Met326Ile genotypes, P = 0.038].CONCLUSIONSOur results suggest that the PI3-kinase gene Met326Ile polymorphism may not be a major determinant for the development of PCOS, but it may modulate the concentrations of serum 17-OHP or free testosterone in PCOS patients.

Original languageEnglish
Pages (from-to)1184-1190
Number of pages7
JournalHuman Reproduction
Volume24
Issue number5
DOIs
StatePublished - May 2009

Keywords

  • Hyperinsulinemia
  • Met326Ile polymorphism
  • Phosphatidylinositol 3-kinase
  • Polycystic ovary syndrome

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