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Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes
Journal article   Open access   Peer reviewed

Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes

Britton Trabert, Stephen M. Schwartz, Ulrike Peters, Anneclaire J. De Roos, Chu Chen, Delia Scholes and Victoria L. Holt
Fertility and sterility, v 96(6), pp 1401-1406
2011
PMID: 21958689
url
http://www.fertstert.org/article/S0015028211025039/pdfView
Published, Version of Record (VoR) Open

Abstract

candidate genes case-control endometriosis genetic polymorphisms Population-based sex hormone metabolic pathway
To evaluate the relationship between common genetic variation in genes involved in the biosynthesis and signaling of estrogen and progesterone and endometriosis risk. Genetic polymorphism analysis. Population-based case-control study conducted in Group Health Cooperative enrollees in western Washington. Women with newly diagnosed, surgically confirmed endometriosis between 1996 and 2001 (n = 256) and age- and reference year–matched female control subjects without a history of endometriosis (n = 567). None. We evaluated the relationship between common genetic variation and endometriosis risk, using gene-based tests and single-variant analysis of genetic polymorphisms in ESR1, ESR2, PGR, CYP17A1, CYP19A1, HSD17B1, HSD17B2, CYP1A1, CYP1A2, COMT, and GSTM1. The most consistent gene-based association with endometriosis risk was for CYP19A1. We did not find evidence for consistent significant associations between previously reported candidate SNPs in sex hormone–related genes and endometriosis risk. In summary, we report increased endometriosis risk with CYP19A1 gene-based tests; replication of the association between endometriosis and this gene or gene region is necessary in a larger study population.

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#3 Good Health and Well-Being
#5 Gender Equality

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Collaboration types
Domestic collaboration
Web of Science research areas
Obstetrics & Gynecology
Reproductive Biology
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