Nod样受体蛋白3和胱天蛋白酶募集域蛋白8基因多态性与克罗恩病的相关性

The association of Nod-like receptor protein 3 and caspase recruitment domain protein 8 gene polymorphisms with Crohn's disease

目的 探讨Nod样受体蛋白3(NLRP3)和胱天蛋白酶募集域蛋白8(CARD8)基因多态性与克罗恩病(CD)的相关性.方法 收集130例CD患者和144名正常对照者,采用改良多重高温连接酶检测反应技术检测NLRP3(rs10754558)和CARD8(rs2043211)2个单核苷酸多态性(SNP).结果 CD组与对照组比较,NLRP3(rs10754558)和CARD8(rs2043211)2个SNP位点的突变等位基因和基因型频率差异均无统计学意义(P>0.05).分层分析显示,与结肠型CD比较,回肠病变CD患者CARD8(rs2043211)位点的突变等位基因(T)和基因型(TT)频率均明显降低,差异有统计学意义(P<0.05).结论 NLRP3(rs10754558)和CARD8(rs2043211)基因多态性与CD的易感性无关,而CARD8(rs2043211)基因突变可能影响CD患者的疾病部位.

Objective To investigate the associations of Crohn's disease with Nod-like receptor protein 3(NLRP3)and caspase recmitment domain-containing protein 8(CAKD8)gene polymorphisms.Methods A total of 130 patients with Crohn's disease(CD)and 144 healthy controls were recruited in our study.Two single nucleotide polymorphisms(SNPs)of NLRP3(rsl0754558)and CARD8(rs2043211)were examined by the improved multiple ligase detection reaction technique.Results Compared with the controls,the allele and genotype distributions of NLKP3(rs1O754558)and CARD8(rs2043211)gene did not statistically differ in CD patients(P>0.05).In the stratified analyses,the mutant allele(T)and genorype(TT)of CARD8(rs2043211)were shown to be significantly decreased in pure ileal CD and ileocolonic CD,compared with colonic CD(P<0.05).Conclusion The genetic polymorphism of NLRP3(rs10754558)and CARD8(rs2043211)may not correlate with the susceptibility of CD.However,the mutation of CARD8(rs2043211)might influence the lesion locations of CD.