Germ line polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility
Germ line polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility
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DOI：
10.1093/carcin/18.12.2307
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发表时间：
1997-12-01
期刊：
影响因子：
4.7
通讯作者：
Reventos, J
中科院分区：
文献类型：
--
作者：
Esteller, M;Garcia, A;Reventos, J
我们在此描述了一项病例对照研究，以确定亚甲基四氢叶酸还原酶（MTHFR）和细胞色素P-450 1A1 （CYP1A1）基因多态性与子宫内膜癌易感性之间的关系，因此，80名子宫内膜癌患者的基因型频率与60名对照组的频率相比，DNA分析显示，MTHFR基因677位丙氨酸取代缬氨酸显著增加子宫内膜癌的风险，优势比为2.8(95%可信区间：1.36-6.14,P = 0.002)，且缬氨酸等位基因患者的肿瘤更未分化（P = 0.03）。另一方面，最近发现的CYP1A1基因外显子7的突变（密码子461中的苏氨酸与天冬酰胺交换）与子宫内膜癌的风险密切相关，比值比为6.36（95%置信区间：1.99-26.5,P = 0.0004）。因此，本研究表明，MTHFR多态性和CYP1A1变异可能影响子宫内膜癌的易感性，尽管需要更大的样本量来证实这些发现。
We describe here a case-control study to identify associations between polymorphisms at the methylenetetrahydrofolate reductase (MTHFR) and cytochrome P-450 1A1 (CYP1A1) genes and susceptibility to endometrial cancer, Accordingly, genotype frequencies in 80 endometrial carcinoma patients mere compared with frequencies in 60 controls, DNA analysis suggest a significantly increased endometrial cancer risk with an alanine to valine substitution at nucleotide 677 of MTHFR gene with an odds ratio of 2.8 (95% confidence interval: 1.36-6.14, P = 0.002), Moreover, the tumors from patients with the valine allele were more undifferentiated (P = 0.03). On the other hand, a recently described mutation in exon 7 of CYP1A1 gene (threonine exchanged to asparagine in codon 461) showed a strong association with endometrial cancer risk with an odds ratio of 6.36 (95% confidence interval: 1.99-26.5, P = 0.0004), Thus, this study suggests that polymorphisms at MTHFR and a novel CYP1A1 variant could influence susceptibility to endometrial cancer, although larger sample sizes would be required to corroborate these findings.