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

Authors: Trabert, Britton; Schwartz, Stephen M; Peters, Ulrike; De Roos, Anneclaire J; Chen, Chu; Scholes, Delia; Holt, Victoria L

Published In Fertil Steril, (2011 Dec)

Abstract: 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.

PubMed ID: 21958689 Exiting the NIEHS site

MeSH Terms: Adolescent; Adult; Aromatase/genetics; Aromatase/metabolism; Case-Control Studies; Endometriosis/genetics*; Endometriosis/metabolism; Female; Genetic Association Studies*; Genetic Variation*; Gonadal Steroid Hormones/genetics; Gonadal Steroid Hormones/metabolism*; Humans; Metabolic Networks and Pathways/genetics*; Middle Aged; Polymorphism, Single Nucleotide; Receptors, Estrogen/genetics; Receptors, Estrogen/metabolism; Steroid 17-alpha-Hydroxylase/genetics; Steroid 17-alpha-Hydroxylase/metabolism; Uterine Diseases/genetics*; Uterine Diseases/metabolism; Young Adult

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