A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome

Sheera Siegel, Walter Futterweit, Terry F. Davies, Erlinda S. Concepcion, David A. Greenberg, Ronald Villanueva, Yaron Tomer

Research output: Contribution to journalArticle

77 Scopus citations

Abstract

Objective: To examine whether the insulin receptor (INSR) gene contributes to genetic susceptibility to the polycystic ovary syndrome (PCOS). Design: Case-control study. Setting: Academic endocrinology clinic. Patient(s): Ninety-nine women with PCOS as defined by the National Institutes of Health consensus and polycystic ovaries on ultrasonography, and 136 healthy controls. Main Outcome Measure(s): Frequency of genotypes of a single nucleotide polymorphism of the INSR gene in patients and controls. Result(s): After stratification of participants by body mass index, the frequency of the uncommon T allele of the INSR single nucleotide polymorphism was significantly increased in lean patients with PCOS (body mass index ≤27 kg/m2) compared with lean controls (relative risk, 2.1). Conclusion(s): The INSR gene is a susceptibility gene for PCOS among lean patients with PCOS. It remains to be determined whether the exon 17 C/T single nucleotide polymorphism is the susceptibility single nucleotide polymorphism for PCOS or whether it is in linkage disequilibrium with another INSR gene polymorphism.

Original languageEnglish (US)
Pages (from-to)1240-1243
Number of pages4
JournalFertility and Sterility
Volume78
Issue number6
DOIs
StatePublished - Dec 1 2002
Externally publishedYes

Keywords

  • Association
  • Gene
  • Insulin receptor
  • Polycystic ovary syndrome
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Fingerprint Dive into the research topics of 'A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome'. Together they form a unique fingerprint.

  • Cite this