Arg399Gln 多态性标记物 XRCC1 基因、Arg72Pro 多态性标记物 TP53 基因和 MDM2 基因与吉尔吉斯斯坦女性乳腺癌的相关性。
The association of polymorphic markers Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene with breast cancer in Kyrgyz females.
机构信息
, Institute of Molecular Biology and Medicine, 3 Togolok Moldo Str, 720040, Bishkek, Kyrgyzstan.
, Al-Farabi Kazakh National University, School of Public Health, Al-Farabi avenue 71, 050040, Almaty, Kazakhstan.
出版信息
BMC Cancer. 2017 Nov 13;17(1):758. doi: 10.1186/s12885-017-3762-y.
BACKGROUND
The association of genes XRCC1, TP53 and MDM2 with breast cancer (BC) has never been tested in Kyrgyz population. We, therefore, aimed to identify an association of alleles and genotypes of polymorphic markers Arg399Gln of gene XRCC1, Arg72Pro of gene TP53, and T309G of gene MDM2 with the risk of BC in Kyrgyz women.
METHODS
This was a case-control study of 219 women of Kyrgyz origin with morphologically verified BC (N = 117) and 102 controls, age-matched with BC cases. The mean age of subjects in this study was 52.2 ± 10.8 years. We extracted DNA from the venous blood and genotyped polymorphic markers Arg399Gln of gene XRCC1, Arg72Pro of gene TP53 and T309G of gene MDM2 using polymerase chain reaction and the method of restriction fragment polymorphism.
RESULTS
Allele 399Gln (OR 1.57; 95% CI 1.05-2.35), Arg399Gln of gene XRCC1 heterozygous genotype (OR 2.77; 95% CI 1.60-4.80), the combination of Arg399Gln/Arg72Pro of genes XRCC1/TP53 heterozygous genotype (OR 3.98; 95% CI 1.57-10.09), Arg399Gln/T309G of genes XRCC1/MDM2 (OR 3.0; 95% CI 1.18-7.56), as well as Arg399Gln/Arg72Pro/T309G of genes XRCC1/TP53/MDM2 (OR 6.40; 95% CI 1.18-34.63) were associated with BC in Kyrgyz women.
CONCLUSIONS
This is the first study to identify the inter-loci interaction and to find molecular markers of individual risk of BC in Kyrgyz women.
背景
基因 XRCC1、TP53 和 MDM2 的等位基因与乳腺癌（BC）的关联从未在吉尔吉斯人群中进行过测试。因此，我们旨在确定多态标记物 XRCC1 基因 Arg399Gln、TP53 基因 Arg72Pro 和 MDM2 基因 T309G 的等位基因和基因型与吉尔吉斯女性 BC 风险的关联。
方法
这是一项病例对照研究，共纳入 219 名来自吉尔吉斯斯坦的经形态学证实的 BC 女性患者（N=117）和 102 名年龄匹配的对照者。本研究中受试者的平均年龄为 52.2±10.8 岁。我们从静脉血中提取 DNA，使用聚合酶链反应和限制性片段多态性方法对基因 XRCC1 的 Arg399Gln、基因 TP53 的 Arg72Pro 和基因 MDM2 的 T309G 多态性标记进行基因分型。
结果
等位基因 399Gln（OR 1.57；95%CI 1.05-2.35）、基因 XRCC1 的 Arg399Gln 杂合基因型（OR 2.77；95%CI 1.60-4.80）、基因 XRCC1/TP53 的 Arg399Gln/Arg72Pro 杂合基因型（OR 3.98；95%CI 1.57-10.09）、基因 XRCC1/MDM2 的 Arg399Gln/T309G（OR 3.0；95%CI 1.18-7.56）以及基因 XRCC1/TP53/MDM2 的 Arg399Gln/Arg72Pro/T309G（OR 6.40；95%CI 1.18-34.63）与吉尔吉斯斯坦女性 BC 相关。
结论
这是首次在吉尔吉斯斯坦女性中确定基因间相互作用并找到个体 BC 风险的分子标记。
Zotero 插件