Variants in the HMG-CoA reductase (HMGCR) gene influence component phenotypes in polycystic ovary syndrome

Ning Xu, Kent D. Taylor, Ricardo Azziz, Mark O. Goodarzi

Research output: Contribution to journalArticle

4 Scopus citations


Objective: To study the role of genetic variation in the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase (HMGCR) gene in polycystic ovary syndrome (PCOS). Design: Women with and without PCOS were genotyped for seven single-nucleotide polymorphisms (SNPs) in HMGCR. The SNPs and haplotypes were determined and tested for association with PCOS and its component traits. Setting: Subjects were recruited from the reproductive endocrinology clinic at the University of Alabama at Birmingham; control subjects were recruited from the surrounding community. Genotyping took place at Cedars-Sinai Medical Center in Los Angeles. Patient(s): A total of 287 white PCOS women and 187 control subjects were studied. Intervention(s): Phenotypic and genotypic assessment. Main Outcome Measure(s): HMGCR genotype, PCOS diagnosis, androgen levels, metabolic traits. Result(s): No association with PCOS was observed. SNP rs4629571 was associated with increased insulin resistance. Haplotype 3 was associated with increased insulin resistance. Haplotype 5 was associated with higher SHBG and lower free T. Conclusion(s): Variation in the HMGCR gene may influence component features of PCOS, including insulin resistance, SHBG, and free T. HMGCR may thus act as a modifier gene in PCOS.

Original languageEnglish (US)
JournalFertility and sterility
Issue number1
StatePublished - Jan 1 2010



  • Polycystic ovary syndrome
  • SHBG
  • androgens
  • insulin resistance

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

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