title: Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes.
abstract: OBJECTIVE
  To evaluate the relationship between common genetic variation in genes involved in the biosynthesis and signaling of estrogen and progesterone and endometriosis risk.
  
  
  METHODS
  Genetic polymorphism analysis.
  
  
  METHODS
  Population-based case-control study conducted in Group Health Cooperative enrollees in western Washington.
  
  
  METHODS
  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).
  
  
  METHODS
  None.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: University of Washington, Seattle, Washington, USA. britton.trabert@nih.gov
authors.forename: Britton
authors.initials: B
authors.lastname: Trabert
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Schwartz
authors.forename: Ulrike
authors.initials: U
authors.lastname: Peters
authors.forename: Anneclaire J
authors.initials: AJ
authors.lastname: De Roos
authors.forename: Chu
authors.initials: C
authors.lastname: Chen
authors.forename: Delia
authors.initials: D
authors.lastname: Scholes
authors.forename: Victoria L
authors.initials: VL
authors.lastname: Holt
mesh_terms: D000293:Adolescent; D000328:Adult; D001141:Aromatase / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation; D012739:Gonadal Steroid Hormones / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D053858:Metabolic Networks and Pathways / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000235:genetics / Q000378:metabolism; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics / Q000378:metabolism; D014591:Uterine Diseases / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D012739:Gonadal Steroid Hormones; D011960:Receptors, Estrogen; D001141:Aromatase; D013254:Steroid 17-alpha-Hydroxylase