title: Variants in hormone biosynthesis genes and risk of endometrial cancer.
abstract: We investigated the risk associated with variants in three genes involved in estrogen biosynthesis, CYP11A1, CYP17A1, and CYP19A1, in the population-based case-control study of Estrogen, Diet, Genetics, and Endometrial Cancer. This study was conducted in New Jersey in 2001-2006 with 417 cases and 402 controls. For CYP11A1, there was no association between the number of [TTTTA]( n ) repeats (D15S520) and risk. For CYP17A1, risk was somewhat lower among women with the C/C genotype at T-34C (rs743572) (adjusted OR = 0.65, 95% CI 0.41-1.02). For CYP19A1, risk was lower among women homozygous for the 3-bp deletion (rs11575899) in exon 4 (adjusted OR = 0.44, 95% CI 0.26-0.76), while the number of [TTTA]( n ) repeats was not significantly related to risk: the adjusted OR for n = 7/7 repeats versus n > 7/>7 repeats was 0.81 (95% CI 0.54-1.23). In stratified analyses, results for CYP19A1 were stronger among women with higher (> or =27.4) body mass index: for the homozygous deletion, OR = 0.30 (95% CI 0.15-0.62); for the n = 7/7 genotype, OR = 0.49 (95% CI 0.26-0.93). The interaction between the n = 7/7 genotype and BMI was statistically significant (p = 0.01). The insertion/deletion variant in CYP19A1 appears to be related to risk of endometrial cancer; risk associated with variants in this gene may vary according to BMI.
authors.affiliation: Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, 10065, USA. olsons@mskcc.org
authors.forename: Sara H
authors.initials: SH
authors.lastname: Olson
authors.forename: Irene
authors.initials: I
authors.lastname: Orlow
authors.forename: Sharon
authors.initials: S
authors.lastname: Bayuga
authors.forename: Camelia
authors.initials: C
authors.lastname: Sima
authors.forename: Elisa V
authors.initials: EV
authors.lastname: Bandera
authors.forename: Katherine
authors.initials: K
authors.lastname: Pulick
authors.forename: Shameka
authors.initials: S
authors.lastname: Faulkner
authors.forename: Diana
authors.initials: D
authors.lastname: Tommasi
authors.forename: Daniel
authors.initials: D
authors.lastname: Egan
authors.forename: Pampa
authors.initials: P
authors.lastname: Roy
authors.forename: Homer
authors.initials: H
authors.lastname: Wilcox
authors.forename: Ali
authors.initials: A
authors.lastname: Asya
authors.forename: Ippolito
authors.initials: I
authors.lastname: Modica
authors.forename: Haider
authors.initials: H
authors.lastname: Asad
authors.forename: Robert
authors.initials: R
authors.lastname: Soslow
authors.forename: Ann G
authors.initials: AG
authors.lastname: Zauber
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001141:Aromatase / Q000235:genetics*; D015992:Body Mass Index; D016022:Case-Control Studies; D002786:Cholesterol Side-Chain Cleavage Enzyme / Q000235:genetics; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D018895:Microsatellite Repeats; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics
chemical_list: D001141:Aromatase; C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase; D002786:Cholesterol Side-Chain Cleavage Enzyme