人类白细胞抗原DRB等位基因多态性与克罗恩病遗传易感性的研究

目的　研究人类白细胞抗原 (HLA) DRB等位基因多态性与汉族人克罗恩病 (CD)的遗传易感性的关系。方法　应用基因芯片技术分析了 2 0例汉族CD患者和 2 0例健康对照者HLA DRB的基因分型 ,采用Fisher’s精确概率法比较两组各位点等位基因频率分布的差异。结果　CD患者DRB1 0 4和DRB1 0 7等位基因表达频率明显增高 ,OR分别为 12 6 6 7和 18 379,P <0 0 5 ;DRB1 12等位基因表达频率明显下降 ,OR为 0 14 4 4 ,P <0 0 5。其它等位基因在两组之间差异无显著意义。病变累及回肠者DRB1 0 7等位基因表达频率较病变累及其它部位者显著增加 (P <0 0 5 )。结论　DRB1 0 4和 或DRB1 0 7等位基因可能是我国汉族人群CD的易感基因 ,DRB1 12则为抵抗基因。HLA DR不同基因型的表达与疾病的临床特征有一定关系

Relationship between Human Leucocyte Antigen (HLA)-DRB Allele Polymorphism and Genetic Susceptibility to Crohn Disease in Chinese Hans

Objective To explore the relationship between human leucocyte antigen (HLA)-DRB allele polymorphism and genetic susceptibility to Crohn disease (CD) in Chinese Hans.Methods Analyze the HLA-DRB genotypes of 20 patients with CD in Jilin Region of China by DNA microarray, using 20 healthy persons as control. Compare the allele frequencies of test and control groups by Fisher accurate probability method.Results The frequencies of DRB1*04 and DRB1*07 alleles were 40% and 30% respectively in patients, which were significantly higher than those in control (5% and 0%,odds ratios 12.667 and 18.379 respectively, P<0.05). The frequency of DRB1*12 allele in patients (15%)decreased significantly compared with that in control (55%,odds ratios 0.1444,P<0.05). However, no significant differences were observed in the frequencies of other alleles in patients and in control. The frequency of DRB1*07 allele in the patients with pathological changes at ileum increased significantly in comparison with that at other organs.Conclusion DRB1*04 and DRB1*07 alleles may be the susceptibility genes of patients with CD in Han nationality in Jilin Region, and DRB1*12 allele may be a resistance gene. The expression of HLA-DR of various genotypes may be associated with the clinical phenotype of Crohn disease.