B7-H4基因多态性与黑龙江省乳腺癌易感性的研究

 目的　探讨B7-H4基因 rs10754339、rs10801935和rs3738414等SNP位点多态性与黑龙江省妇女乳腺癌发病风险的相关性。方法　利用聚合酶链反应限制性片段长度多态性（PCR-RFLP）技术，对287例黑龙江省汉族女性乳腺癌患者和305名健康对照者进行B7-H4基因位点多态性检测，并确定常见单体型（频率≥1 %），分析患者与健康对照差异，进而确定该基因与黑龙江省汉族妇女乳腺癌的相关性。结果　B7-H4基因3'-UTR区rs10754339位点的G等位基因、AA、AG基因型发生频率在乳腺癌组和健康对照组间差异有统计学意义（P＝0.030，OR 1.359，95 % CI 1.030～1.794；P＝0.018，OR 0.671，95 % CI 0.482～0.935；P＝0.029，OR 1.455，95 % CI 1.038～2.038）。5'-UTR区rs3738414位点的A等位基因、GG基因型和AG基因型发生频率在乳腺癌患者和健康对照组之间差异有统计学意义（P＝0.0008，OR 0.604，95 % CI 0.455～0.803；P＝0.001，OR 1.804，95 % CI 1.289～2.253；P＝0.005，OR 0.612，95 % CI 0.435～0.862）。AAA单体型和GAG单体型发生频率在乳腺癌患者和健康对照组之间差异有统计学意义（P＝0.0015，OR 0.614，95 % CI 0.456～0.828；P＝0.0003，OR 1.954，95 % CI 1.363～2.803）。结论　B7-H4基因多态性与黑龙江省汉族妇女乳腺癌发病存在一定相关性。

Association between polymorphisms of B7-H4 gene and the risk of sporadic breast cancer in Heilongjiang Province

Objective To evaluate the association between the polymorphisms of BT-H4 gene and the risk of breast cancer, a case-control study was conducted in the population of Heilongjiang province, China. Methods We genotyped the single nucleotide polymorphisms of rs10754339, rs10801935 and rs3738414 in B7-H4 gene by PCR-RFLP in a Chinese population consisting of 287 breast cancer cases and 305 controls matched for age and sex, tagged all common haplotypes (frequency ≥ 1%), and analyzed the differences between patients and normal controls. Results Our data indicated that in rs10754339, the frequencies of G allele, AA genotype and AG genotype were significantly different between patients and controls (P=0.030, OR 1.359, 95 % CI 1.030-1.794; P=0.018, OR 0.671, 95 % CI 0.482-0.935; P=0.029, OR 1.455, 95 % CI 1.038-2.038, respectively). In rs3738414, the frequencies of A allele, GG genotype and AG genotype were significantly different between patients and controls (P=0.0008, OR 0.604, 95 % CI 0.455-0.803; P=0.001, OR 1.804, 95 % CI 1.289-2.253; P=0.005, OR 0.612, 95 % CI 0.435-0.862). The frequencies of AAA haplotype and GAG haplotype were significantly different between patients and controls (P=0.0015, OR 0.614, 95 % CI 0.456-0.828; P=0.0003, OR 1.954, 95 % CI 1.363-2.803). Conclusion Polymorphisms of B7-H4 gene appear to be associated with breast cancer in the population of Heilongjiang province, China.