Two polymorphisms, rs2046210 and rs3803662, are associated with breast cancer risk in a Vietnamese case-control cohort
Two polymorphisms, rs2046210 and rs3803662, are associated with breast cancer risk in a Vietnamese case-control cohort
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DOI：
10.1266/ggs.17-00053
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发表时间：
2018-06-01
影响因子：
1.1
通讯作者：
Nguyen Thi Hue
中科院分区：
文献类型：
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作者：
Nguyen Thi Ngoc Thanh;Nguyen Thi Tuyet Lan;Nguyen Thi Hue
乳腺癌是世界范围内女性最常见的癌症。乳腺肿瘤的发生包括外在和内在因素。在内在方面，DNA变异的出现可引起遗传不稳定，这可能导致癌变。全基因组关联研究在许多不同人群中发现了几种潜在的乳腺癌相关单核苷酸多态性（SNP）。其中，7个（rs2046210，rs1219648，rs3817198，rs3803662，rs889312，rs10941679和rs13281615）已被证明与各种人群（包括与越南人非常相似的人群）的乳腺癌风险显著相关。因此，我们在越南人群病例对照队列中研究了这些SNPs与乳腺癌风险之间的关系。对300例乳腺癌患者和325名健康对照者进行实时PCR高分辨率熔解曲线分析，并通过R软件分析病例组和对照组之间等位基因和基因型频率的差异，确定7个SNPs与乳腺癌风险之间的关联。虽然7个SNP中有5个与乳腺癌无关，但另外两个SNP rs2046210和rs3803662与越南女性患乳腺癌的风险有关。A等位基因是rs2046210（OR [95%CI] = 1.43 [1.14 1.78]，P = 0.0015）和rs3803662（OR [95%CI] = 1.45 [1.16 1.83]，P = 0.001）的危险等位基因。我们的结论是，两个多态性，在ESR1的rs2046210和TNRC9的rs3803662，与越南人群的乳腺癌风险。
Breast cancer is the most common cancer in women worldwide. Breast tumorigenesis encompasses both extrinsic and intrinsic factors. Among intrinsic aspects, the appearance of DNA variation can cause genetic instability, which may lead to carcinogenesis. Genome-wide association studies have found several potential breast cancer-associated single nucleotide polymorphisms (SNPs) in many different populations. Among these, seven (rs2046210, rs1219648, rs3817198, rs3803662, rs889312, rs10941679 and rs13281615) have been shown to be significantly associated with breast cancer risk in various populations including those very similar to the Vietnamese. Here, therefore, we have investigated the relationship between these SNPs and breast cancer risk in a Vietnamese population case-control cohort. Real-time PCR high-resolution melt analysis was performed to genotype 300 breast cancer cases and 325 healthy controls, and the association between the seven SNPs and breast cancer risk was determined by analyzing the differences in allelic and genotypic frequencies between case and control groups using R software. While five of the seven showed no association with breast cancer, there was a relationship between the other two SNPs, rs2046210 and rs3803662, and the risk of developing this disease in Vietnamese women. The A allele is the risk allele for both rs2046210 (OR [95% CI] = 1.43 [1.14 1.78], P = 0.0015) and rs3803662 (OR [95% CI] = 1.45 [1.16 1.83], P = 0.001). We conclude that two polymorphisms, rs2046210 in ESR1 and rs3803662 in TNRC9, are associated with breast cancer risk in the Vietnamese population.