Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/8460
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Type: Journal article
Title: Thirty-seven candidate genes for polycystic ovary syndrome: Strongest evidence for linkage is with follistatin
Author: Urbanek, M.
Legro, R.
Driscoll, D.
Azziz, R.
Ehrmann, D.
Norman, R.
Strauss, J.
Spielman, R.
Dunaif, A.
Citation: Proceedings of the National Academy of Sciences of USA, 1999; 96(15):8573-8578
Publisher: NATL ACAD SCIENCES
Issue Date: 1999
ISSN: 0027-8424
1091-6490
Statement of
Responsibility: 
Urbanek, Margrit ; Legro, Richard S. ; Driscoll, Deborah A. ; Azziz, Ricardo ; Ehrmann, David A. ; Norman, Robert J. ; Strauss,, Jerome F. ; Spielman, Richard S. ; Dunaif, Andrea
Abstract: Polycystic ovary syndrome (PCOS) is a common endocrine disorder of women, characterized by hyperandrogenism and chronic anovulation. It is a leading cause of female infertility and is associated with polycystic ovaries, hirsutism, obesity, and insulin resistance. We tested a carefully chosen collection of 37 candidate genes for linkage and association with PCOS or hyperandrogenemia in data from 150 families. The strongest evidence for linkage was with the follistatin gene, for which affected sisters showed increased identity by descent (72%; chi(2) = 12.97; nominal P = 3.2 x 10(-4)). After correction for multiple testing (33 tests), the follistatin findings were still highly significant (P(c) = 0.01). Although the linkage results for CYP11A were also nominally significant (P = 0.02), they were no longer significant after correction. In 11 candidate gene regions, at least one allele showed nominally significant evidence for population association with PCOS in the transmission/disequilibrium test (chi(2) >/= 3.84; nominal P < 0.05). The strongest effect in the transmission/disequilibrium test was observed in the INSR region (D19S884; allele 5; chi(2) = 8.53) but was not significant after correction. Our study shows how a systematic screen of candidate genes can provide strong evidence for genetic linkage in complex diseases and can identify those genes that should have high (or low) priority for further study.
Keywords: Humans
Polycystic Ovary Syndrome
Hyperandrogenism
Oligomenorrhea
Cytochrome P-450 Enzyme System
Glycoproteins
Follistatin
Genetic Markers
Chromosome Mapping
Nuclear Family
Genotype
Phenotype
Female
Genetic Linkage
DOI: 10.1073/pnas.96.15.8573
Appears in Collections:Aurora harvest
Obstetrics and Gynaecology publications

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