炎症性肠病的MIF-173位点单核苷酸多态性研究

Association of MIF-173 SNP with inflammatory bowel disease

目的探讨中国浙江地区汉族人群中巨噬细胞移动抑制因子(MIF)基因单核苷酸多态性(SNP)分布,分析其与炎症性肠病(IBD)的相关性。方法分别应用四引物突变特异性扩增系统(ARMS)法和限制性片段长度多态性(RFLP)-PCR方法对142名健康个体和99例IBD患者MIF基因-173位点SNP多态性进行分型,并将PCR产物克隆及测序鉴定。结果MIF基因-173位点检测到3种基因型,其基因型分布皆符合Hardy-Weinberg平衡定律。四引物ARMS法和RFLP-PCR两种方法结果完全一致。统计分析显示,溃疡性结肠炎(UC)患者MIF-173位点CC基因型频率15.5%显著高于正常人中的5.6%(P<0.05)。MIF-173位点等位基因和基因型频率在IBD患者和正常人群中差异无统计学意义(P>0.05)。进一步分析发现CC基因型与UC患者的临床特征无关。结论四引物ARMS是一种准确、快速和经济的SNP测定方法。MIF-173位点CC基因型可能与UC的发生相关。

Objective：The study is to investigate whether macrophage migration inhibitory factor（MIF）-173 single nucleotide polymorphism（SNP） correlates with inflammatory bowel disease （IBD） in Chinese Han population in Zhejiang Province. Methods： MIF-173 SNP alleles were typed using tetra-primer amplification refractory mutation system（ARMS） and restriction fragment length polymorphisms（RFLP）-PCR in 142 healthy subjects and 98 patients with inflammatory bowel disease（IBD） ,respectively. At the same time,the PCR products were cloned and sequenced. Results：We detected three kinds of genotypes at the MIF-173 locus,no deviation from Hardy-Weiuberg equilibrium were observed. The result was the same from tetra-primer ARMS and RFLP-PCR. Statistical analysis showed,the frequency of MIF-173 CC genotype was significantly higher in patients with ulcerative colitis（UC） 15. 5% than in healthy individuals 5. 6% （P 〈0. 05）. There was no significant difference of allelic frequency and genotype frequency at the MIF-173 locus between Crohn＇ s disease（CD） patients and healthy controls. However CC genotype wasn＇t related to clinical feature in patients with UC. Conclusion ：Tetra-primer ARMS is an accurate, rapid and economical SNP genotyping method. MIF-173 CC genotype may be associated with the susceptibility to UC.