A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome.
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.
Siegel
Sheera
S
Division of Endocrinology Diabetes and Bone Disease, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA.
Futterweit
Walter
W
Davies
Terry F
TF
Concepcion
Erlinda S
ES
Greenberg
David A
DA
Villanueva
Ronald
R
Tomer
Yaron
Y
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*
D011505:Protein-Tyrosine Kinases; D011972:Receptor, Insulin