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

作者:Sproul Kari; Jones Michelle R; Azziz Ricardo; Goodarzi Mark O*
来源:European Journal of Endocrinology, 2009, 161(3): 405-409.
DOI:10.1530/EJE-09-0245

摘要

Objective: To examine the genes for AMP-activated protein kinase (AMPK) subunits alpha 2 (PRKAA2) and gamma 3 (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 poly In orph isms (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 AMPK alpha 2 and AMPK gamma 3 were not associated with PCOS or its component traits. Our evidence does not demonstrate that AMPK is a major genetic risk factor for PCOS.

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