白细胞介素-18基因多态性与汉族人群炎症性肠病的相关性

The association between interleukin-18 genetic polymorphisms and inflammatory bowel disease in the Han nationality

目的探讨白细胞介素-18(IL-18)基因多态性与炎症性肠病(IBD)的相关性。方法收集溃疡性结肠炎(UC)患者96例、克罗恩病(CD)患者73例及正常对照者114例,采用改良多重高温连接酶检测反应技术检测IL-18基因rs1946518和rs1872382种单核昔酸多态性(SNP)。结果L-18(rs1946518和rs187238)2个SNP位点的等位基因和基因型频率在CD组和对照组间比校差异均无统计学意义(P>0.05),UC组中rs1946518位点纯合子TT基因型频率显著低于对照组(16.67%vs.34.21%,P=0.005,OR=0.385,95%CI:0.198-0.745);进一步分层分析显示,与广泛结肠炎比较,远端结肠炎患者(2946518)位点基因型(GG+GT)频率明显升高(88.88%vs.72.73%,P=0.044,OR=3.00,95%CI:1.001~8.989);CD患者分层分析结果显示,IL-18(rs1946518和rs187238)基因多态性与CD疾病行为及疾病部位均无关(P>0.05)。结论IL-18(rs1946518、rs187238)基因2个SNP与浙江汉族人群CD的易感性无关,而rs1946518基因突变不仅增加UC的发病风险,还可能影响UC患者的疾病部位。

Objective To investigate the associations between the genetic polymorphisms of Interleukin-18 with the susceptibility to inflammatory bowel disease (IBD ) in the Han nationality. Methods A total of 96 patients with ulcerative colitis (UC), 73 patients with Crohn's disease ( CD ) and 114 healthy controls were recruited in our study. Two SNPs of IL-18 ( rsl946518 and rsl87238 ) were examined by the improved multiple ligase detection reaction technique. Results The genotype (TT) of IL18 (rs1946518 ) was decreased in UC patients compared to the controls (16.67% vs 34.21%, P=0.005, OR=0.385, 95%CI: 0.198~0.745). However, the allele and genotype frequencies of IL 18 (rs1946518 and rsl87238 ) did not statistically differ between CD patients and the controls (all P>0.05 ).In stratified analyses, the frequency of genotype ( GG+GT ) of IL 18 ( rs1946518 ) was significantly higher in UC patients with distal colitis than in those with extensive colitis ( 88.88% vs 72.73%, P=0.044, OR=3.00, 95%CI: 1.001~8.989). The above two polymorphic loci, nevertheless, were not significantly associated with the cEnical features of CD after stratified by locations and behaviors of the disease. Conclusions The genetic polymorphism of IL-18 ( rsl946518 and rsl87238) may not correlate with the susceptibility of CD. The mutation of rs 1946518, moreover, may not only increase the risk of UC, but also influence the lesion locations of UC.