Results
| PMID | 21958689 |
| Gene Name | CYP19A1 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 823 |
| Population details | 823 (256 endometriosis, 567 female control subjects without a history of endometriosis) |
| Sex | Female |
| Associated genes | CYP19A1 |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2011 Dec;96(6):1401-1406.e3. doi: Trabert, Britton| Schwartz, Stephen M| Peters, Ulrike| De Roos, Anneclaire J| Chen, Chu| Scholes, Delia| Holt, Victoria L University of Washington, Seattle, Washington, USA. britton.trabert@nih.gov OBJECTIVE: To evaluate the relationship between common genetic variation in genes involved in the biosynthesis and signaling of estrogen and progesterone and endometriosis risk. DESIGN: Genetic polymorphism analysis. SETTING: Population-based case-control study conducted in Group Health Cooperative enrollees in western Washington. PATIENT(S): 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). INTERVENTIONS(S): None. MAIN OUTCOME MEASURE(S): 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. RESULT(S): 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. CONCLUSION(S): 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. Mesh Terms: Adolescent| Adult| Aromatase/genetics/metabolism| Case-Control Studies| Endometriosis/*genetics/metabolism| Female| *Genetic Association Studies| *Genetic Variation| Gonadal Steroid Hormones/genetics/*metabolism| Humans| Metabolic Networks and P |
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