Original Paper

Cancer Causes & Control

, Volume 19, Issue 9, pp 955-963

Variants in hormone biosynthesis genes and risk of endometrial cancer

  • Sara H. OlsonAffiliated withDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center Email author 
  • , Irene OrlowAffiliated withDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center
  • , Sharon BayugaAffiliated withDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center
  • , Camelia SimaAffiliated withDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center
  • , Elisa V. BanderaAffiliated withCancer Institute of New Jersey
  • , Katherine PulickAffiliated withWilliam Randolph Hearst Burn Center, New York Presbyterian Hospital
  • , Shameka FaulknerAffiliated withGlencoe/McGraw-Hill
  • , Diana TommasiAffiliated withDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center
  • , Daniel EganAffiliated withDepartment of Medecine, NYU Medical Center
    • , Pampa RoyAffiliated withDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center
    • , Homer WilcoxAffiliated withNew Jersey Department of Health and Senior Services
    • , Ali AsyaAffiliated withDepartment of Pathology, Memorial Sloan-Kettering Cancer Center
    • , Ippolito ModicaAffiliated withDepartment of Pathology, Memorial Sloan-Kettering Cancer Center
    • , Haider AsadAffiliated withDepartment of Pathology, Memorial Sloan-Kettering Cancer Center
    • , Robert SoslowAffiliated withDepartment of Pathology, Memorial Sloan-Kettering Cancer Center
    • , Ann G. ZauberAffiliated withDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center

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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 (≥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.

Keywords

Endometrial cancer Epidemiology CYP11A1 CYP17A1 CYP19A1