Olson Sara H, Orlow Irene, Bayuga Sharon, Sima Camelia, Bandera Elisa V, Pulick Katherine, Faulkner Shameka, Tommasi Diana, Egan Daniel, Roy Pampa, Wilcox Homer, Asya Ali, Modica Ippolito, Asad Haider, Soslow Robert, Zauber Ann G
Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, 10065, USA.
Cancer Causes Control. 2008 Nov;19(9):955-63. doi: 10.1007/s10552-008-9160-7. Epub 2008 Apr 25.
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 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 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.
在“雌激素、饮食、遗传学与子宫内膜癌”这项基于人群的病例对照研究中，我们调查了参与雌激素生物合成的三个基因CYP11A1、CYP17A1和CYP19A1中的变异与风险的相关性。该研究于2001年至2006年在新泽西州进行，共有417例病例和402例对照。对于CYP11A1，TTTTA重复序列（D15S520）的数量与风险之间无关联。对于CYP17A1，T - 34C（rs743572）位点C/C基因型的女性风险略低（校正OR = 0.65，95%CI 0.41 - 1.02）。对于CYP19A1，外显子4中3 - bp缺失（rs11575899）的纯合子女性风险较低（校正OR = 0.44，95%CI 0.26 - 0.76），而TTTA重复序列的数量与风险无显著相关性：n = 7/7重复序列与n > 7/>7重复序列相比，校正OR为0.81（95%CI 0.54 - 1.23）。在分层分析中，CYP19A1的结果在体重指数较高（≥27.4）的女性中更为显著：对于纯合缺失，OR = 0.30（95%CI 0.15 - 0.62）；对于n = 7/7基因型，OR = 0.49（95%CI 0.26 - 0.93）。n = 7/7基因型与体重指数之间的相互作用具有统计学意义（p = 0.01）。CYP19A1中的插入/缺失变异似乎与子宫内膜癌风险相关；该基因变异相关的风险可能因体重指数而异。
