本文選題：尋常型銀屑病 + 易感基因��； 參考：《安徽醫(yī)科大學》2015年碩士論文

【摘要】：研究背景:尋常型銀屑病屬于銀屑病中最常見的一種,特征為紅色斑塊上覆白色厚層鱗屑,約占臨床表型的百分之九十。銀屑病病因尚不明確,目前普遍認為是由遺傳、環(huán)境、免疫等多種因素相互作用引起,其中遺傳因素發(fā)揮主要作用。銀屑病的全球發(fā)病率約為0.1~3%。本課題組前期開展銀屑病的外顯子芯片研究鑒定出C1orf141(rs72933970),SON(rs3174808),GPR160(rs6444895)三個漢族人尋常型銀屑病的易感基因�；蛐捅硇拖嚓P性研究將有助于進一步揭示PV的病因和發(fā)病機制。目的:通過對PV的發(fā)病年齡、疾病嚴重程度、皮損類型、有無家族史等因素進行分層研究,探索C1orf141(rs72933970),SON(rs3174808),GPR160(rs6444895)的多態(tài)性與PV表型的相關性,進一步解釋遺傳及環(huán)境因素在PV病因、發(fā)病機制中的作用。方法:通過填寫統(tǒng)一的銀屑病調查表或者正常對照調查表獲取9390病例和10800對照的臨床信息。3個SNPs的基因分型資料來源于本課題組前階段的銀屑病外顯子芯片研究數(shù)據(jù)。通過對數(shù)據(jù)的收集、歸納、篩選和整理,使用SPSS20.0軟件中的卡方檢驗(χ2檢驗)對基因型-表型數(shù)據(jù)進行統(tǒng)計分析,得出P-value,OR值,95%CI(95%可信區(qū)間)。結果:1.C1orf141(rs72933970),SON(rs3174808),GPR160(rs6444895)的多態(tài)性與漢族人群尋常型銀屑病發(fā)病風險存在顯著相關(PC1orf141=1.23×10-08,OR=1.16;PSON=1.15×10-08,OR=1.10;PGPR160=1.44×10-12,OR=1.11);2.C1orf141(rs72933970)的多態(tài)性與銀屑病發(fā)病時間、發(fā)病類型相關�；蛐秃偷任换蝾l率分布在早發(fā)型-晚發(fā)型兩組間比較,差異有統(tǒng)計學意義(P等位基因=0.012,OR等位基因=0.84,95%CI等位基因=0.733-0.962,P基因型=0.042)。在點滴型-斑塊型患者(P等位基因=6.41×10-3,OR等位基因=0.851,95%CI等位基因=0.757-0.956,P基因型=0.018)組間比較,結果同樣也有統(tǒng)計學意義。C1orf141 rs72933970等位基因頻率分布除在中度、重度、中重度、點滴型這四種表型組與對照組的比較無統(tǒng)計學意義以外,其他各表型-對照組均有統(tǒng)計學意義;3.SON(rs3174808)的多態(tài)性在點滴型-斑塊型患者組間等位基因頻率分布有差異(P等位基因=0.025,OR等位基因=0.919,95%CI等位基因=0.854-0.990),但基因型間比較無統(tǒng)計學意義,除去早發(fā)型、點滴型及家族史陽性患者組外,其余各組與對照組的比較均有統(tǒng)計學意義;4.GPR160(rs6444895)的多態(tài)性與銀屑病發(fā)病程度相關,在輕度患者-中度患者(P等位基因=0.013,OR等位基因=0.921,95%CI等位基因=0.864-0.982,P基因型=0.040)、輕度患者-中重度患者(P等位基因=0.014,OR等位基因=0.927,95%CI等位基因=0.872-0.985,P基因型=0.043)組別中基因型和等位基因頻率分布差異有統(tǒng)計學意義,在臨床表型與對照組的比較中除早發(fā)型、重度患者兩種表型,其他各表型-對照組間P值均小于0.05。結論:C1orf141(rs72933970),SON(rs3174808),GPR160(rs6444895)的多態(tài)性與中國漢族人群尋常型銀屑病發(fā)病風險存在顯著相關;其中C1orf141(rs72933970)的多態(tài)性與銀屑病患者的發(fā)病時間、發(fā)病類型相關,尤其是早發(fā)型、斑塊型;SON(rs3174808)的多態(tài)性與PV發(fā)病類型相關,特別是斑塊型銀屑病;GPR160(rs6444895)的多態(tài)性與中國漢族人PV的發(fā)病程度相關。
[Abstract]:Background: psoriasis vulgaris is one of the most common types of psoriasis characterized by white thick layer scales covered with red patches, which accounts for about ninety percent of the clinical phenotypes. The etiology of psoriasis is not yet clear. At present, it is generally believed to be caused by various factors such as heredity, environment, immunity and so on, and the genetic factors play a major role. The global incidence of chip disease is about 0.1~3%. in the group of C1orf141 (rs72933970), SON (rs3174808), GPR160 (rs6444895) three people with psoriasis vulgaris. The study of genotype phenotype correlation will help to further reveal the etiology and pathogenesis of PV. Study the correlation between the polymorphism of C1orf141 (rs72933970), SON (rs3174808), GPR160 (rs6444895) and PV phenotype, and further explain the role of genetic and environmental factors in the cause of PV and the pathogenesis of the pathogenesis of PV. The.3 SNPs genotyping data from 9390 cases and 10800 controls were derived from the data of the exons of the psoriasis in the first stage of our group. Through the collection, induction, screening and sorting of the data, the chi square test (chi 2 test) of the SPSS20.0 software was used for genotyping. P-value, OR, 95%CI (95% confidence interval). Results: there was a significant correlation between the polymorphism of 1.C1orf141 (rs72933970), SON (rs3174808), GPR160 (rs6444895) and the risk of psoriasis vulgaris in Han population (PC1orf141= 1.23 x 10-08. The polymorphism of 1orf141 (rs72933970) was related to the onset time and type of psoriasis. The frequency distribution of genotype and allele in early onset and late onset two groups was statistically significant (P allele =0.012, OR allele =0.84,95%CI allele =0.733-0.962, P genotype =0.042). In dot type and plaque type patients (P allele) The gene =6.41 * 10-3, OR allele =0.851,95%CI allele =0.757-0.956 and P genotype =0.018) were compared between groups. The results also showed that the frequency distribution of.C1orf141 rs72933970 alleles was also statistically significant except for moderate, severe, moderate and severe, and there was no statistical significance for other phenotypic groups. The polymorphism of 3.SON (rs3174808) was different in the allele frequency distribution between the drip type and the plaque type patients (P allele =0.025, OR allele =0.919,95%CI allele =0.854-0.990), but there was no statistical significance between the genotypes, except for the early onset, drop type and family history positive patients. The 4.GPR160 (rs6444895) polymorphism was correlated with the degree of psoriasis, in mild patients - moderate patients (P allele =0.013, OR allele =0.921,95%CI allele =0.864-0.982, P genotype =0.040), mild patients - moderate and severe patients (P allele =0.014, OR allele), The difference of genotype and allele frequency distribution in the 95%CI allele =0.872-0.985 and P genotype =0.043) was statistically significant. In the comparison of the clinical phenotype and the control group, the early hair style, the two phenotypes of the severe patients, and the P values among the other phenotypes and the control groups were smaller than the 0.05. junctions: C1orf141 (rs72933970), SON (rs3174808), GPR160 (rs6444895). There is a significant correlation between polymorphism and the risk of psoriasis vulgaris in Chinese Han population; the polymorphism of C1orf141 (rs72933970) is related to the onset time and type of psoriasis, especially the early onset, plaque type, SON (rs3174808) polymorphism and the type of PV, especially the plaque type psoriasis; GPR160 (rs6444895). The polymorphism was associated with the incidence of PV in Chinese Han population.

【學位授予單位】：安徽醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R758.63

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