本文選題：銀屑病 + MHC��； 參考：《安徽醫(yī)科大學(xué)》2010年碩士論文

【摘要】： 研究背景銀屑病(Psoriasis)是一種常見的以紅斑、鱗屑為主要臨床表現(xiàn)的慢性復(fù)發(fā)性炎癥性皮膚病。在漢族人中發(fā)病率約為0.123%,目前我國銀屑病患者約400萬。臨床上以尋常型銀屑病最多見,占患者總數(shù)的90%以上。銀屑病確切發(fā)病機(jī)制尚未完全明確,目前認(rèn)為該病是一種遺傳與環(huán)境等多種因素共同作用的復(fù)雜性疾病。其中可能的遺傳易感基因包括人類白細(xì)胞抗原(Human leukocyte antigen,HLA)相關(guān)基因和非HLA相關(guān)基因。全基因組關(guān)聯(lián)分析是一種對全基因組范圍內(nèi)的常見遺傳變異(單核苷酸多態(tài)性和拷貝數(shù)變異)進(jìn)行總體關(guān)聯(lián)分析的方法,在全基因組范圍內(nèi)進(jìn)行整體研究,能夠一次性對疾病進(jìn)行輪廓性概覽,適用于包括銀屑病在內(nèi)的復(fù)雜疾病的研究。無論是以往的關(guān)聯(lián)研究還是現(xiàn)在的全基因組關(guān)聯(lián)分析研究,均提示銀屑痛與涉及人類免疫性疾病的免疫反應(yīng)的MHC位點(diǎn)(如HLA—Cw6和其他MHC變異位點(diǎn))緊密相關(guān)。 目的研究MHC基因多態(tài)性與漢族人銀屑病(PA)易感性的相關(guān)性。 方法對本次實(shí)驗(yàn)中的2519個病例和2498個對照的對MHC基因中的rs1265181位點(diǎn)進(jìn)行基因分型,結(jié)合之前研究的標(biāo)本(1139個病例和1132個對照),從而我們建立一個模型將所有的病例分為RAG組和PAG組。據(jù)此,我們來研究不同組別銀屑病患者的表型分布。 結(jié)果在主導(dǎo)模型下,我們對結(jié)果進(jìn)行綜合分析發(fā)現(xiàn)了rs1265181位點(diǎn)與PA的發(fā)病呈高度相關(guān)性(P 10-300, OR =23.4, 95% CI: 20.7-26.4).。發(fā)現(xiàn)具有易感等位基因(G)的標(biāo)本有82.06%的為銀屑病病例,而具有保護(hù)性等位基因(C)的標(biāo)本則83.63%的為對照。RAG組病例(n=3079)有著更早的發(fā)病年齡,更高的重型銀屑病的發(fā)生率,更高的點(diǎn)滴狀銀屑病的發(fā)病率,更好發(fā)于軀干且更易并發(fā)糖尿病。PAG組病例(n=579)則更易發(fā)于頭皮部。關(guān)于年齡和性別,兩組間無統(tǒng)計(jì)學(xué)意義上的差異。 結(jié)論在漢族人中,RAG組病例與PAG組病例有著顯著地臨床表現(xiàn)上的差異。本課題組的研究提供了充分的證據(jù)說明rs1265181是MHC區(qū)的銀屑病發(fā)病的重要的易感基因位點(diǎn)。
[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.
【學(xué)位授予單位】：安徽醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2010
【分類號】：R758.63

【共引文獻(xiàn)】

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