Division of Epidemiology, Department of Medicine and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Vanderbilt University, Nashville, Tennessee, United States of America.
PLoS One. 2013 Apr 23;8(4):e60915. doi: 10.1371/journal.pone.0060915. Print 2013.
In vitro studies have demonstrated the role of the BCL-2 family of genes in endometrial carcinogenesis. The role of genetic variants in BCL-2 genes and their interactions with non-genetic factors in the development of endometrial cancer has not been investigated in epidemiological studies.
We examined the relationship between BCL-2 gene family variants and endometrial cancer risk among 1,028 patients and 1,922 age-matched community controls from Shanghai, China. We also investigated possible interactions between genetic variants and established risk factors (demographic, lifestyle and clinical). Individuals were genotyped for 86 tagging single nucleotide polymorphisms (SNPs) in the BCL2, BAX, BAD and BAK1 genes.
Significant associations with endometrial cancer risk were found for 9 SNPs in the BCL2 gene (P trend<0.05 for all). For SNPs rs17759659 and rs7243091 (minor allele for both: G), the associations were independent. The odds ratio was 1.27 (95% CI: 1.04-1.53) for women with AG genotype for the SNP rs17759659 and 1.82 (95% CI: 1.21-2.73) for women with the GG genotype for the SNP rs7243091. No interaction between these two SNPs and established non-genetic risk factors of endometrial cancer was noticed.
Genetic polymorphisms in the BCL2 gene may be associated with the risk of endometrial cancer in Chinese women.
体外研究已经证明了 BCL-2 家族基因在子宫内膜癌发生中的作用。遗传变异在 BCL-2 基因中的作用及其与非遗传因素在子宫内膜癌发展中的相互作用尚未在流行病学研究中进行研究。
我们在中国上海检查了 1028 名患者和 1922 名年龄匹配的社区对照者的 BCL-2 基因家族变异与子宫内膜癌风险之间的关系。我们还研究了遗传变异与已建立的危险因素（人口统计学，生活方式和临床）之间可能存在的相互作用。个体的 BCL2、BAX、BAD 和 BAK1 基因中的 86 个标记单核苷酸多态性（SNP）进行了基因分型。
在 BCL2 基因中发现了 9 个与子宫内膜癌风险相关的 SNP（所有 SNP 的 P 趋势均<0.05）。对于 SNP rs17759659 和 rs7243091（两种 SNP 的次要等位基因均为 G），关联是独立的。对于 SNP rs17759659 的 AG 基因型的女性，比值比为 1.27（95％CI：1.04-1.53），对于 SNP rs7243091 的 GG 基因型的女性，比值比为 1.82（95％CI：1.21-2.73）。没有注意到这两个 SNP 与子宫内膜癌的已建立的非遗传危险因素之间存在交互作用。
BCL-2 基因中的遗传多态性可能与中国女性子宫内膜癌的风险相关。
