一项汉族女性中 BARD1 基因非同义突变与乳腺癌相关性的横断面研究。
A cross-sectional study of associations between nonsynonymous mutations of the BARD1 gene and breast cancer in Han Chinese women.
机构信息
Breast Department, Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou, Henan Province, China.
出版信息
Asia Pac J Public Health. 2013 Jul;25(4 Suppl):8S-14S. doi: 10.1177/1010539513497220.
UNLABELLED
The PCR-PIRA and PCR-RFLP techniques were used for BARD1 genotyping. Correlations between gene polymorphisms and the susceptibility to breast cancer were analyzed by logistic regression analysis.
RESULTS
showed that compared with the wild type of 378 Arg/Arg of BRAD1, the homozygotic type of 378 Ser/Ser with Arg378Ser site mutation had a protective effect (adjusted odds ratio: 0.628, 95% confidence interval: 0.306-1.145). Compared with individuals carrying the wild type of 24Pro/Pro, the disease risk of individuals with the heterozygous type of 24 Pro/Ser decreased by 30.6% and that with the mutational homozygotic type of 24 Ser/Ser decreased by 43.8%. SNP sites rs2229571 and rs1048108 of BARD1 are associated with a lower risk of breast cancer but not rs2070094.
未标记
使用 PCR-PIRA 和 PCR-RFLP 技术进行 BARD1 基因分型。通过逻辑回归分析分析基因多态性与乳腺癌易感性之间的相关性。
结果表明，与 BRAD1 378Arg/Arg 野生型相比，Arg378Ser 位点突变的纯合型 378Ser/Ser 具有保护作用（调整后的优势比：0.628，95%置信区间：0.306-1.145）。与携带 24Pro/Pro 野生型的个体相比，24Pro/Ser 杂合型个体的疾病风险降低了 30.6%，24Ser/Ser 突变纯合型个体的疾病风险降低了 43.8%。BARD1 的 SNP 位点 rs2229571 和 rs1048108 与乳腺癌的低风险相关，但 rs2070094 则不相关。
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