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

75 Citations (Scopus)

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

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Polycystic Ovary Syndrome
Insulin Receptor
Single Nucleotide Polymorphism
Genes
Body Mass Index
Endocrinology
Linkage Disequilibrium
National Institutes of Health (U.S.)
Genetic Predisposition to Disease
insulin receptor tyrosine kinase
Case-Control Studies
Ovary
Exons
Ultrasonography
Alleles
Genotype
Outcome Assessment (Health Care)

Keywords

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

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome. / Siegel, Sheera; Futterweit, Walter; Davies, Terry F.; Concepcion, Erlinda S.; Greenberg, David A.; Villanueva, Ronald; Tomer, Yaron.

In: Fertility and Sterility, Vol. 78, No. 6, 01.12.2002, p. 1240-1243.

Research output: Contribution to journalArticle

Siegel, Sheera ; Futterweit, Walter ; Davies, Terry F. ; Concepcion, Erlinda S. ; Greenberg, David A. ; Villanueva, Ronald ; Tomer, Yaron. / A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome. In: Fertility and Sterility. 2002 ; Vol. 78, No. 6. pp. 1240-1243.
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