中国北方人群NBS基因外显子SNPs分布及其与乳腺癌的关系

基础医学与临床 ›› 2015, Vol. 35 ›› Issue (12): 1645-1647.

中国北方人群NBS基因外显子SNPs分布及其与乳腺癌的关系

金鑫¹,金紫凝²,牛亚梅³,金峰²,佟伟民⁴

1. 海南省公安厅
2. 中国医科大学附属第一医院
3. 中国医学科学院基础医学研究所
4. 中国医学科学院基础医学研究所北京协和医学院基础学院

收稿日期:2015-10-19 修回日期:2015-10-27 出版日期:2015-12-05 发布日期:2015-12-04
通讯作者: 佟伟民 E-mail:wmtong@ibms.pumc.edu.cn
基金资助:
中国医学科学院基础医学研究所所院长基金;教育部博士点基金

Association between NBS polymorphisms and breast cancer in north Chinese

Received:2015-10-19 Revised:2015-10-27 Online:2015-12-05 Published:2015-12-04
Contact: Wei-min TONG E-mail:wmtong@ibms.pumc.edu.cn

摘要/Abstract

摘要： 目的 NBS基因是参与DNA损伤修复的重要组分，其基因突变或单核苷酸多态性（SNPs）与家族性或散发性人类疾病或肿瘤密切相关。本研究探讨NBS基因与中国北方人群乳腺癌的相关性。方法对205例正常人及188例乳腺癌患者NBS基因的16个外显子进行直接测序。结果在中国北方人群乳腺癌样本中未发现NBS基因突变。对基因频率大于5%的SNPs进行分析发现，D399D的AG与GG基因型较AA基因型发生乳腺癌的风险增加2.34和1.93倍，提示该SNP与乳腺癌的发生具有相关性。结论 NBS基因的第10外显子SNP，D399D可能与中国北方人群乳腺癌发生相关。

关键词: DNA修复，NBS，乳腺癌

Abstract: Objective To investigate the mutations and polymorphisms of NBS in breast cancer in north Chinese. Methods Direct sequencing analysis of 205 normal control and 188 breast cancers. Result There is no NBS gene mutation was detected in breast cancer patients. Four major NBS polymorphisms were detected, and D399D of NBS gene was significantly associated with risk of breast cancer. Comparing to D399D AA genotype, AG and GG genotype was associated with substantially increased risk of breast cancer in north Chinese (odd ratio = 2.34 and 1.93, 95% confidence interval = 1.34-4.07 and 0.93-4.02, respectively). Conclusion Current evidence suggests that NBS polymorphism D399D might contribute to the risk for breast cancer in north Chinese.

Key words: DNA repair, NBS, breast cancer

金鑫金紫凝牛亚梅金峰佟伟民. 中国北方人群NBS基因外显子SNPs分布及其与乳腺癌的关系[J]. 基础医学与临床, 2015, 35(12): 1645-1647.