Association study of AMP-activated protein kinase subunit genes in polycystic ovary syndrome.

OBJECTIVE To examine the genes for AMP-activated protein kinase (AMPK) subunits alpha2 (PRKAA2) and gamma3 (PRKAG3) as candidates for polycystic ovary syndrome (PCOS) and its component traits. DESIGN AND METHODS A total of 287 white PCOS women were recruited from the reproductive endocrinology clinic at the University of Alabama at Birmingham and 187 white control subjects were recruited from the surrounding community. Seven PRKAA2 single nucleotide polymorphisms (SNPs) and four PRKAG3 SNPs were genotyped in PCOS cases and controls. Genotyping and association analysis were performed at Cedars-Sinai Medical Center. RESULTS Nominal associations of PRKAA2 variants with insulin-related traits and the PRKAG3 Pro71Ala variant with PCOS were not statistically significant after multiple testing correction. Among PCOS patients, there were no associations between variants in AMPK subunit genes and androgenic or reproductive traits. CONCLUSIONS Variants in genes for AMPKalpha2 and AMPKgamma3 were not associated with PCOS or its component traits. Our evidence does not demonstrate that AMPK is a major genetic risk factor for PCOS.