MHC区基因多态性与汉族人银屑病相关性研究

发布时间：2018-05-08 09:20

本文选题：银屑病 + MHC　；参考：《安徽医科大学》2010年硕士论文

【摘要】： 研究背景银屑病(Psoriasis)是一种常见的以红斑、鳞屑为主要临床表现的慢性复发性炎症性皮肤病。在汉族人中发病率约为0.123%,目前我国银屑病患者约400万。临床上以寻常型银屑病最多见,占患者总数的90%以上。银屑病确切发病机制尚未完全明确,目前认为该病是一种遗传与环境等多种因素共同作用的复杂性疾病。其中可能的遗传易感基因包括人类白细胞抗原(Human leukocyte antigen,HLA)相关基因和非HLA相关基因。全基因组关联分析是一种对全基因组范围内的常见遗传变异(单核苷酸多态性和拷贝数变异)进行总体关联分析的方法,在全基因组范围内进行整体研究,能够一次性对疾病进行轮廓性概览,适用于包括银屑病在内的复杂疾病的研究。无论是以往的关联研究还是现在的全基因组关联分析研究,均提示银屑痛与涉及人类免疫性疾病的免疫反应的MHC位点(如HLA—Cw6和其他MHC变异位点)紧密相关。目的研究MHC基因多态性与汉族人银屑病(PA)易感性的相关性。方法对本次实验中的2519个病例和2498个对照的对MHC基因中的rs1265181位点进行基因分型,结合之前研究的标本(1139个病例和1132个对照),从而我们建立一个模型将所有的病例分为RAG组和PAG组。据此,我们来研究不同组别银屑病患者的表型分布。结果在主导模型下,我们对结果进行综合分析发现了rs1265181位点与PA的发病呈高度相关性(P 10-300, OR =23.4, 95% CI: 20.7-26.4).。发现具有易感等位基因(G)的标本有82.06%的为银屑病病例,而具有保护性等位基因(C)的标本则83.63%的为对照。RAG组病例(n=3079)有着更早的发病年龄,更高的重型银屑病的发生率,更高的点滴状银屑病的发病率,更好发于躯干且更易并发糖尿病。PAG组病例(n=579)则更易发于头皮部。关于年龄和性别,两组间无统计学意义上的差异。结论在汉族人中,RAG组病例与PAG组病例有着显著地临床表现上的差异。本课题组的研究提供了充分的证据说明rs1265181是MHC区的银屑病发病的重要的易感基因位点。
[Abstract]:Background Psoriasis is a common chronic recurrent inflammatory dermatosis with erythema and scales as the main clinical manifestation. The incidence of psoriasis in Han nationality is about 0. 123%. At present, the incidence of psoriasis in China is about 0. 4 million. Psoriasis vulgaris was the most commonly seen clinically, accounting for more than 90% of the patients. The exact pathogenesis of psoriasis has not been completely clarified, and it is considered to be a complex disease which is affected by many factors, such as heredity and environment. Possible genetic susceptibility genes include human leukocyte antigen-associated genes and non- related genes. Genome-wide association analysis is a method of overall association analysis of common genome-wide genetic variations (single nucleotide polymorphisms and copy number variations). A one-off outline of the disease can be applied to the study of complex diseases, including psoriasis. Both the previous association studies and the whole genome association studies suggest that silver chip pain is closely related to the MHC sites (such as HLA-Cw6 and other MHC mutation sites) involved in immune response to human immune diseases. Objective to study the association between the polymorphism of MHC gene and the susceptibility to psoriasis in Han nationality. Methods the rs1265181 loci in the MHC gene were genotyped in 2519 cases and 2 498 controls in this study. A model was established to divide all cases into RAG group and PAG group. Accordingly, we studied the phenotypic distribution of different groups of psoriasis patients. Results under the dominant model, we found that the rs1265181 locus was highly correlated with the incidence of PA (P 10-300, OR 23.4,95% CI: 20.7-26.4). It was found that 82.06% of the samples with susceptible allele G were psoriasis, while 83.63% of those with protective allele C had earlier onset age and higher incidence of severe psoriasis. A higher incidence of droplet psoriasis, more likely to occur in the trunk and more likely to be complicated by diabetes. PAG group, was more likely to occur in the scalp. There was no significant difference in age and sex between the two groups. Conclusion there is a significant difference in clinical manifestations between rag group and PAG group in Han nationality. Our study provides sufficient evidence that rs1265181 is an important susceptibility gene locus to psoriasis in the MHC region.
【学位授予单位】：安徽医科大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R758.63

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