Variants in the HMG-CoA reductase (HMGCR) gene influence component phenotypes in polycystic ovary syndrome
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Updated: Jun 24, 2026

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
Published on: March 5, 2022
Ning Xu1, Kent D Taylor, Ricardo Azziz
1Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
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.
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