title: A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome.
abstract: OBJECTIVE
  To examine whether the insulin receptor (INSR) gene contributes to genetic susceptibility to the polycystic ovary syndrome (PCOS).
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  Academic endocrinology clinic.
  
  
  METHODS
  Ninety-nine women with PCOS as defined by the National Institutes of Health consensus and polycystic ovaries on ultrasonography, and 136 healthy controls.
  
  
  METHODS
  Frequency of genotypes of a single nucleotide polymorphism of the INSR gene in patients and controls.
  
  
  RESULTS
  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 < or =27 kg/m2) compared with lean controls (relative risk, 2.1).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Endocrinology Diabetes and Bone Disease, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA.
authors.forename: Sheera
authors.initials: S
authors.lastname: Siegel
authors.forename: Walter
authors.initials: W
authors.lastname: Futterweit
authors.forename: Terry F
authors.initials: TF
authors.lastname: Davies
authors.forename: Erlinda S
authors.initials: ES
authors.lastname: Concepcion
authors.forename: David A
authors.initials: DA
authors.lastname: Greenberg
authors.forename: Ronald
authors.initials: R
authors.lastname: Villanueva
authors.forename: Yaron
authors.initials: Y
authors.lastname: Tomer
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D015992:Body Mass Index; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D011505:Protein-Tyrosine Kinases; D011972:Receptor, Insulin