title: Variation in resistin gene promoter not associated with polycystic ovary syndrome.
abstract: Polycystic ovary syndrome (PCOS) is a leading cause of anovulatory infertility and affects approximately 4-7% of reproductive age women in the U.S. It is characterized by hyperandrogenemia and chronic anovulation and is associated with insulin resistance, obesity, and increased risk for type 2 diabetes. In a screen of candidate genes, a region on chromosome 19p13.3 was identified that shows significant evidence for both linkage and association with PCOS. A promising candidate gene for PCOS, resistin, maps to exactly this region. Resistin is a protein hormone thought to modulate glucose tolerance and insulin action. We tested for association between a single nucleotide polymorphism in the promoter region of the resistin gene and three phenotypes: PCOS, obesity, and insulin resistance. We did not find evidence for association with any of the phenotypes. It is therefore unlikely that variation in the resistin gene accounts for the strong association that we observe between chromosome 19p13.3 and PCOS. Instead, this association is most likely due to a gene or genetic element in this region that has not been identified.
authors.affiliation: Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Margrit
authors.initials: M
authors.lastname: Urbanek
authors.forename: Yangzhu
authors.initials: Y
authors.lastname: Du
authors.forename: Kaisa
authors.initials: K
authors.lastname: Silander
authors.forename: Francis S
authors.initials: FS
authors.lastname: Collins
authors.forename: Claire M
authors.initials: CM
authors.lastname: Steppan
authors.forename: Jerome F
authors.initials: JF
authors.lastname: Strauss
authors.forename: Andrea
authors.initials: A
authors.lastname: Dunaif
authors.forename: Richard S
authors.initials: RS
authors.lastname: Spielman
authors.forename: Richard S
authors.initials: RS
authors.lastname: Legro
mesh_terms: D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006729:Hormones, Ectopic / Q000235:genetics*; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D009765:Obesity / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D052243:Resistin
chemical_list: D006729:Hormones, Ectopic; D036341:Intercellular Signaling Peptides and Proteins; C499624:RETN protein, human; C486574:RETNLB protein, human; D052243:Resistin