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rs751402基因多态性是泰国散发性乳腺癌的危险因素。

rs751402 polymorphism is the risk factor for sporadic breast cancer in Thailand.

作者信息

Pongsavee Malinee, Wisuwan Kamol

机构信息

Department of Medical Technology, Faculty of Allied Health Sciences, Thammasat University, Rangsit Campus Patumthani 12121, Thailand.

Department of Pathology, Ubonratchathani Cancer Hospital Ubonratchathani, Thailand.

出版信息

Int J Mol Epidemiol Genet. 2018 Aug 20;9(4):27-33. eCollection 2018.

Abstract

Breast cancer is a complex disease. Single Nucleotide Polymorphisms (SNPs) can modify the risk of cancer. They may be regarded as potential markers of carcinogenesis. Currently, the diversity or polymorphism of ERCC5 gene (excision repair cross-complementary group 5 gene or ) was reported to associate with an increased risk of breast cancer. This study aims to investigate the relationship between polymorphism and the breast cancer risk in the lower northeastern region women of Thailand. One hundred fifty five samples from breast cancer patients and 122 samples from healthy control group were analysed. Genomic DNA was extracted from white blood cell of all samples. The real-time polymerase chain reaction (qPCR) was used to demonstrate genetic polymorphism of . The results showed that the rs751402 polymorphism variant AG was associated with an increased risk of breast cancer. The frequency of rs751402 in patients with breast cancer was higher than healthy control group. The rs751402 variant AG carrier was associated with increased breast cancer risk to 2.3 folds, with OR = 2.30, 95% CI = 1.22-4.35, = 0.01, when age, menopause period, number of child, smoking and alcohol drinking were adjust. This study demonstrated that rs751402 genotype AG was associated with breast cancer risk in the lower northeastern region women of Thailand.

摘要

乳腺癌是一种复杂的疾病。单核苷酸多态性(SNP)可改变患癌风险。它们可被视为致癌作用的潜在标志物。目前,据报道ERCC5基因(切除修复交叉互补组5基因)的多样性或多态性与乳腺癌风险增加有关。本研究旨在调查泰国东北部地区女性中该基因多态性与乳腺癌风险之间的关系。分析了155份乳腺癌患者样本和122份健康对照组样本。从所有样本的白细胞中提取基因组DNA。采用实时聚合酶链反应(qPCR)来证明该基因的遗传多态性。结果显示,ERCC5基因rs751402多态性变体AG与乳腺癌风险增加有关。乳腺癌患者中ERCC5基因rs751402的频率高于健康对照组。在调整年龄、绝经时期、子女数量、吸烟和饮酒因素后,ERCC5基因rs751402变体AG携带者患乳腺癌的风险增加至2.3倍,OR = 2.30,95% CI = 1.22 - 4.35,P = 0.01。本研究表明,ERCC5基因rs751402基因型AG与泰国东北部地区女性的乳腺癌风险有关。

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