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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 investigate the relationship between single nucleotide polymorphism of PALB2 rs249954 and the risk of breast cancer in breast cancer. METHODS: CNKI, Wanfang, CBM, PubMed, Embase, Cochrane Library, Science Direct and Web of Science databases were searched to search the domestic and international data of breast cancer PALB2 rs249954 single nucleotide Based on the inclusion criteria, exclusion criteria and quality evaluation criteria, the literature on the acid polymorphism was screened to meet the requirements, meta-analysis was performed using Stata 14.0 software and the publication bias was evaluated. Results A total of 7 eligible studies were included, including 3 247 breast cancer cases and 3 294 cumulative controls. The meta-analysis showed that in the allele model [T vs C: OR = 1.14, 95% CI was (0.95, 1.37), P = 0.156] The CI was (0.97, 1.54), P = 0.088]. The recessive gene model [TT vs CT + CC: OR = 1.11, 95% CI 0.84, 1.45, P = 0.464] TT [OR = 0.79, 95% CI: (0.54, 1.15), P = 0.226] and co-dominant gene model TT vs CT [OR = 0.95,95% CI (0.82,1.11), P = 0.523] There was no significant difference in OR between co-dominant gene model and CC vs CT [OR = 0.82, 95% CI (0.67, 1.00), P = 0.048] (CC + TT vs CT: OR = 0.85, 95% CI (0.77, 0.94), P = 0.001]. Compared with CC + TT , CT heterozygous genotype can increase the risk of breast cancer. Conclusions Mutation CT genotype of PALB2 rs249954 can increase the risk of breast cancer compared with CC + TT genotype.