摘要
目的探究乳腺癌易感基因PALB2 rs249954位点单核苷酸多态性与乳腺癌发病风险的关系。方法检索中国知网(CNKI)、万方、中国生物医学文献数据库(CBM)、Pub Med、Embase、Cochrane Library、Science Direct及Web of Science数据库,搜索国内外有关乳腺癌PALB2 rs249954位点单核苷酸多态性的文献,依据纳入标准、排除标准以及质量评价原则,筛选出符合要求的文献,使用Stata 14.0软件进行meta分析并对发表偏移进行评估。结果共纳入7篇符合要求的研究,累积乳腺癌病例3 247例,累积对照3 294例。meta分析结果显示,等位基因模型[T vs C:OR=1.14,95%CI为(0.95,1.37),P=0.156]、显性基因模型[CT+TT vs CC:OR=1.22,95%CI为(0.97,1.54),P=0.088]、隐性基因模型[TT vs CT+CC:OR=1.11,95%CI为(0.84,1.45),P=0.464]、共显性基因模型CC vs TT[OR=0.79,95%CI为(0.54,1.15),P=0.226]及共显性基因模型TT vs CT[OR=0.95,95%CI为(0.82,1.11),P=0.523]的合并OR值均无统计学意义;共显性基因模型CC vs CT[OR=0.82,95%CI为(0.67,1.00),P=0.048]的合并OR值具有统计学意义,但敏感性分析示结果不具有稳定性;超显性基因模型的合并OR值具有统计学意义[CC+TT vs CT:OR=0.85,95%CI为(0.77,0.94),P=0.001],相比于CC+TT,CT杂合子基因型可增加乳腺癌的发病风险。结论 PALB2 rs249954位点的突变型CT杂合子基因型相对于CC+TT基因型可增加乳腺癌的发病风险。
Objective To explore the association between a single nucleotide polymorphism in PALB2 rs249954 and breast cancer. Methods Studies regarding the association between a single nucleotide polymorphism in PALB2 rs249954 and breast cancer were searched from CNKI, WanFang, CBM, PubMed, Embase, Cochrane Library, Science Direct, and Web of Science. The eligible studies were screened based on the inclusion, exclusion criteria, and principle of quality evaluating. Meta-analysis and the assessment of published bias were performed by Stata 14.0 software. Results A total of 7 studies were eligible for this study, including 3 247 cumulative cases of breast cancer and 3 294 controls. Through the comparison of a variety of genetic models, we found that there was no significant for the OR of additive model （T vs C： OR=1.14, 95% C/was （0.95, 1.37）, P=0.1561, dominant gene model （CT＋TT vs CC： OR=1.22, 95% C/was （0.97, 1.54）, P=0.088）, recessive gene model （TT vs CT＋CC： OR=I.ll, 95% CI was （0.84, 1.45）, P=0.464）, codominant gene model CC vs TT and TT vs CT （ OR=0.79, 95% C/was （0.54, 1.15）, P=0.226; OR=0.95, 95% C/was （0.82, 1.11）, P=0.523 }; there was significant difference for codominant gene model CC vs CT （ OR=0.82, 95% CI was （0.67, 1.00）, P=0.048）, but the conclusion was different after sensitivity analysis. Besides, there was notable difference for overdominant model （ CC＋TT vs CT： OR=0.85, 95% CI was （0.77, 0.94）, P=0.001 ）. Conclusion The mutant genotype heterozygous （CT） of rs249954 in PALB2 will increase the breast cancer risk.
出处
《中国普外基础与临床杂志》
CAS
2017年第9期1112-1121,共10页
Chinese Journal of Bases and Clinics In General Surgery
