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1.400038 重庆,陆军军医大学(第三军医大学)第一附属医院:乳腺外科
2.400038 重庆,陆军军医大学(第三军医大学)第一附属医院:检验科
[齐晓伟,E-mail:qxw9908@foxmail.com QI Xiaowei, E-mail: qxw9908@foxmail.com
收稿:2018-05-09,
修回:2018-06-08,
纸质出版:2018-07-30
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任林, 郭美, 魏昆, 等. BIRC5基因rs9904341多态性与乳腺癌易感性的关联研究[J]. 第三军医大学学报, 2018,40(14):1306-1310.
Lin REN, Mei GUO, Kun WEI, et al. Association between BIRC5 rs9904341 polymorphism and breast cancer susceptibility[J]. Journal of Third Military Medical University, 2018, 40(14): 1306-1310.
任林, 郭美, 魏昆, 等. BIRC5基因rs9904341多态性与乳腺癌易感性的关联研究[J]. 第三军医大学学报, 2018,40(14):1306-1310. DOI: 10.16016/j.1000-5404.201805065.
Lin REN, Mei GUO, Kun WEI, et al. Association between BIRC5 rs9904341 polymorphism and breast cancer susceptibility[J]. Journal of Third Military Medical University, 2018, 40(14): 1306-1310. DOI: 10.16016/j.1000-5404.201805065.
目的
2
探索BIRC5基因-31G>C(rs9904341)位点多态性与乳腺癌易感性的关联。
方法
2
采用病例对照研究设计,纳入新发女性乳腺癌患者709例和749例健康对照,提取研究对象外周血细胞基因组DNA,通过聚合酶链反应-连接酶反应(PCR-LDR)对rs9904341位点进行基因分型,多因素Logistic回归分析-31G>C(rs9904341)位点多态性与乳腺癌易感性的关联。
结果
2
病例组中GG、GC、CC基因型分布分别为191(26.9%)、354(49.9%)、164(23.1%);对照组中GG、GC、CC基因型分布分别为184(24.6%)、382(51.0%)、183(24.4%)。基因型频率分布差异无统计学意义(
P
=0.566)。基于共显性、显性、隐性、等位基因模型,rs9904341位点与乳腺癌易感性均无显著性关联(
P
>
0.05)。在
>
50岁年龄组和已绝经女性人群,显性模型中显性基因者(GC+CC)相比于GG基因型者患乳腺癌的风险显著降低,效应值分别为:校正
OR
=0.61,95%
CI
=0.38~0.96,
P
=0.031以及校正
OR
=0.63,95%
CI
=0.42~0.95,
P
=0.029。
结论
2
BIRC5基因-31G>C(rs9904341)位点多态性与乳腺癌易感性无显著关联,在>50岁年龄组和已绝经女性人群中,C等位基因携带者(CG+CC)较GG基因型者患乳腺癌易感性显著降低。
Objective
2
To investigate the association between BIRC5 -31G>C (rs9904341) polymorphism and breast cancer susceptibility.
Methods
2
A case-control study was performed on 709 female breast cancer patients freshly-diagnosed by pathology and 749 female healthy control subjects admitted in our hospital from January 2012 to August 2013. Genomic DNA was extracted from their peripheral blood cells
and polymerase chain reaction-ligase detection reaction (PCR-LDR) was used to genotype the polymorphism of rs9904341. Multivariate logistic regression analysis was applied to evaluate the association between -31G>C (rs9904341) polymorphism and breast cancer susceptibility.
Results
2
The genotype distributions for GG
GC and CC were 191 (26.9%)
354 (49.9%) and 164 (23.1%) respectively for the case group
and 184 (24.6%)
382 (51.0%) and 183 (24.4%) separately in the control group. But there was no significant difference in the genotype distributions between the case and control groups (
P
=0.566). Under the co-dominant
dominant
recessive models and allele models
no statistically significant differences were found between rs9904341 polymorphism and breast cancer susceptibility (P
>
0.05). Stratified analyses showed the C allele carriers (CG+CC) had significant lower risk of breast cancer than those with GG and menopause women
with adjusted
OR
=0.61
95%
CI
=0.38~0.96
P
=0.031 in those over 50 years old
and adjusted
OR
=0.63
95%
CI
=0.42~0.95
P
=0.029 for the post-menopause women.
Conclusion
2
No obvious association is found between BIRC5 -31G>C (rs9904341) polymorphism and breast cancer susceptibility. The C allele carriers (CG+CC) have significant lower risk of breast cancer than those with GG in the women older than 50 years and post-menopause.
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