白细胞介素10启动子基因多态性与强直性脊柱炎的易感性

背景：在强直性脊柱炎患者中,基因多态性很可能影响细胞因子的分泌模式。目的：在中国胶东半岛地区汉族人强直性脊柱炎患者中,探讨白细胞介素10启动子基因的单核苷酸多态性和单体型与强直性脊柱炎易感性的相关性。方法：用酶联免疫吸附测定法测定血清中白细胞介素10的水平,用聚合酶链反应和限制性片段长度多态性方法对白细胞介素10基因启动子中的-1082A/G、-819C/T和-592C/A位点的单核苷酸多态性进行分析。结果与结论：收集了110例强直性脊柱炎患者和120例同种族的健康人,强直性脊柱炎患者组血清中白细胞介素10水平明显高于健康对照组(Z=10.9,P < 0.001),单核苷酸多态性分析显示：在强直性脊柱炎患者组和健康对照组之间-592A/C位点基因型分布和等位基因频率没有明显差异,该研究中没有发现-1082GG基因型。强直性脊柱炎患者-1082G等位基因频率较健康对照组增加(P=0.047),通过logistic回归分析,强直性脊柱炎患者-1082AG基因型的比值比为1.993(95%CI：1.046-3.800,P=0.034 ),而-819CC基因型的比值比为3.125(95%CI：1.246-7.836,P=0.015),此外,单体型分析显示与ATA 基因型相比,GCC基因型显著增加了患强直性脊柱炎的风险(OR=2.19,95%CI：1.13- 4.26,P= 0.020)。结果表明白细胞介素10的基因单体型与中国胶东半岛地区汉族人强直性脊柱炎的易感因素相关。

Association between interleukin-10 promoter regions gene polymorphisms and susceptibility of ankylosing spondylitis

BACKGROUND:Gene polymorphism in patients with ankylosing spondylitis, is likely to affect cytokine secretion pattern. OBJECTIVE:To investigate the correlation between single nucleotide polymorphisms and haplotypes of interleukin-10 and the susceptibility of ankylosing spondylitis in Han population from Jiaodong Peninsula of China.  METHODS:The serum levels of interleukin-10 were measured with an enzyme-linked immunosorbent assay. The single nucleotide polymorphisms at positions -1082A/G, -819C/T and -592C/A in the interleukin gene promoter were analyzed using polymerase chain reaction and restriction fragment length polymorphism.RESULTS AND CONCLUSION:110 ankylosing spondylitis patients and 120 ethnic-matched healthy controls were included in this study. The serum levels of interleukin-10 in the ankylosing spondylitis group were significantly higher than that in the healthy control group (Z=-10.9, P < 0.001). Single nucleotide polymorphisms analysis showed there were no significant differences in the allelic and genotypic frequencies of -592A/C between the ankylosing spondylitis group and healthy control group. No -1082GG genotype was found in this study. The frequency of -1082G allele was increased in ankylosing spondylitis group when compared with that in the healthy control group (P=0.047). In a logistic regression analysis, the odds ratio of -1082AG genotype was 1.993 (95% confidence interval, 1.046-3.800, P=0.034) for ankylosing spondylitis. And the odds ratio of -819CC genotype was 3.125 (95% confidence interval, 1.246-7.836, P=0.015) for ankylosing spondylitis. Furthermore, haplotype analysis revealed that GCC haplotype could significantly increase the risk of ankylosing spondylitis when compared with the ATA haplotype (odd ratio=2.19; 95% confidence interval, 1.13-4.26; P=0.02). The results indicate that the gene haplotype of interleukin-10 has relationship with the susceptibility of ankylosing spondylitis in Han population from Jiaodong Peninsula of China.