Document Detail

Variation in resistin gene promoter not associated with polycystic ovary syndrome.
MedLine Citation:
PMID:  12502516     Owner:  NLM     Status:  MEDLINE    
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.
Margrit Urbanek; Yangzhu Du; Kaisa Silander; Francis S Collins; Claire M Steppan; Jerome F Strauss; Andrea Dunaif; Richard S Spielman; Richard S Legro
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Diabetes     Volume:  52     ISSN:  0012-1797     ISO Abbreviation:  Diabetes     Publication Date:  2003 Jan 
Date Detail:
Created Date:  2002-12-27     Completed Date:  2003-01-16     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0372763     Medline TA:  Diabetes     Country:  United States    
Other Details:
Languages:  eng     Pagination:  214-7     Citation Subset:  AIM; IM    
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
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MeSH Terms
Chromosomes, Human, Pair 19 / genetics*
Genetic Variation*
Hormones, Ectopic / genetics*
Insulin Resistance / genetics
Intercellular Signaling Peptides and Proteins*
Obesity / genetics
Polycystic Ovary Syndrome / genetics*
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Grant Support
Reg. No./Substance:
0/Hormones, Ectopic; 0/Intercellular Signaling Peptides and Proteins; 0/RETN protein, human; 0/RETNLB protein, human; 0/Resistin

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