肽基精氨酸脱亚胺酶4基因多态性与结直肠癌的相关性研究

Correlation of peptidylarginine deiminase 4 gene polymorphism and colorectal cancer

目的研究肽基精氨酸脱亚胺酶4（PADI4）基因与结直肠癌发病的相关性，进而探讨PADI4多态性在结直肠癌发病过程中的作用机制。方法采用病例。对照研究，用TaqMan-PCR法对515例结直肠癌患者和549例健康对照者的3个标签单核苷酸多态性（TagSNP）位点，即rs1886302、rs2477131和rs1635561进行基因分型，使用SHEsis和SPSS11．5软件对结果进行x2检验和Logistic回归分析。结果病例组与对照组关联性分析发现，位于PAD14基因内含子1区的rs1886302位点等位基因差异有统计学意义（P〈0．05），基因型显性遗传模式差异也有统计学意义（P〈0．05），等位基因A和基因型AA的OR值分别为0．796和0．731，携带等位基因A的个体会减小患结直肠癌的概率。而位于PAD14内含子1和内含子15区的rs2477131和rs1635561位点等位基因和基因型差异均无显著意义（P〉0．05）。结论PAD14基因是结直肠癌遗传易感基因，rs1886302是结直肠癌的易感性位点。

Objective We aim to investigate the association between peptidylarginine deiminase type 4 （PADI4） and colorectal cancer by genotyping threetag single nucleotide polymorphisms （tagSNP） genetic maker,to explore the role of polymorphism of PADI4 gene in development of colorectal cancer. Methods A case-control study was conducted using TaqMan-PCR methods to analyze the genotypes of three TagSNPs such as rs1886302, rs2477131 and rs1635561 for 515 patients with eolorectal cancer and 549 health controls. Results There is significantly different in allelie frequencies and genotype frequencies of rs1886302 between cases and controls （P = 0.039 and 0. 040, respectively）. The OR value of A allele and AA genotype is 0.796 and 0.731, respectively, and A allele may reduce the probability of incidence of coloreetal cancer. No association was found among SNPs of rs2477131 and rs1635561witbin intronl and intron 15 in terms of coloretal cancer. Conclusion Rs1886302 on PADI4 might be a susceptible SNP to coloretal cancer.