【摘要】：研究背景:銀屑病是一個常見的、慢性丘疹鱗屑性皮膚疾病。其中尋常型銀屑病占了患者總數(shù)的90%以上。遺傳流行病學以及雙生子研究證明銀屑病的發(fā)生除與環(huán)境因素有關外,還具有高度的遺傳性。 應用連鎖分析原理,通過全基因組關聯(lián)(genome wide ascioation,GWA)研究發(fā)現(xiàn)了多個銀屑病易感基因位點。在先前漢族人群銀屑病易感基因GWA研究基礎上,我們進行了進一步的研究,發(fā)現(xiàn)IL23R基因多態(tài)性rs3762318與漢族人銀屑病易感性相關。 目的:從銀屑病的發(fā)病年齡、有無家族史以及皮損類型三個側(cè)面進行分層,探討SNP rs3762318與中國漢族人尋常型銀屑病臨床表型的相關性,為進一步研究銀屑病的發(fā)病機制奠定基礎。 方法:采用統(tǒng)一設計的銀屑病遺傳流行病學調(diào)查表和正常對照調(diào)查表,由經(jīng)過專門培訓的流行病學調(diào)查員以問卷調(diào)查的形式,收集銀屑病病例2883例,對照6180例。所有研究對象的IL23R基因多態(tài)性rs3762318位點基因分型資料(其中1 031例患者和1 117例正常對照的基因分型采用Illumina 610芯片,其余1 852例患者和5 063例正常對照的基因分型采用生物系統(tǒng)Taqman基因分型平臺)。數(shù)據(jù)資料經(jīng)適當轉(zhuǎn)化后應用社會科學統(tǒng)計軟件包SPSS 10.0對資料進行統(tǒng)計學分析。 結(jié)果:1. SNP rs3762318基因型和等位基因的總體分布頻率在病例組與對照組之間存在差異(P值分別為P=1.92×10~(-5)和P=2.23×10~(-5));2.少兒發(fā)病患者與對照比較,rs3762318位點基因型和等位基因分布差異均有統(tǒng)計學意義(χ~2=25.37,df=2,P=3.09×10~(-6);χ~2=24.10,df=1,P=9.17×10~(-7),OR 1.49,95%CI 1.27-1.75)。成人發(fā)病患者分別與對照比較,rs3762318位點基因型和等位基因分布差異亦具有統(tǒng)計學意義(χ~2=9.83,df=2,P=7.0×10~(-3);χ~2=6.75,df=1,P=9.0×10~(-3),OR 1.16,95%CI 1.04-1.29)。而且少兒發(fā)病患者和成人發(fā)病患者間rs3762318位點基因型和等位基因分布差異均有統(tǒng)計學意義(χ~2=8.25,df=2,P=0.0016;χ~2=7.95,df=1,P=0.005,OR 1.29,95%CI 1.08-1.54)。3.家族史陽性患者與對照比較,rs3762318多態(tài)性基因型和等位基因分布差異均有統(tǒng)計學意義(χ~2=10.27,df=2,P=6.0×10~(-3);χ~2=9.68,df=1,P=2×10~(-3),OR 1.30,95%CI 1.10-1.53)。家族史陰性患者與對照比較,rs3762318位點基因型和等位基因分布差異亦具有統(tǒng)計學意義(χ~2=16.13,df=2,P=3.15×10-4;χ~2=12.37,df=1,P=4.35×10-4,OR 1.22,95%CI 1.09-1.36)。家族史陽性患者和陰性患者間rs3762318位點基因型和等位基因分布差異均無統(tǒng)計學意義(χ~2=0.74,df=2,P=0.693;χ~2=0.49,df=1,P=0.49,OR 1.07,95%CI 0.89-1.28)。4.急性點滴型患者與對照比較,rs3762318位點基因型和等位基因分布差異均無統(tǒng)計學意義(χ~2=4.80,df=2,P=0.091;χ~2=1.27,df=1,P=0.259,OR 1.10,95%CI 0.93-1.30)。慢性斑塊型患者與對照比較,rs3762318位點基因型和等位基因分布差異亦具有統(tǒng)計學意義(χ~2=23.06,df=2,P=9.85×10~(-6);χ~2=21.18,df=1,P=4.19×10~(-6),OR 1.29,95%CI 1.16-1.44)。急性點滴型患者與慢性斑塊型患者間rs3762318位點基因型和等位基因分布差異均無統(tǒng)計學意義(χ~2=3.85,df=2,P=0.146;χ~2=2.92,df=1,P=0.087,OR 0.85,95%CI 0.71-1.02)。 結(jié)論:1. IL23R基因SNP rs3762318可能與漢族人銀屑病的易感性相關。2. SNP rs3762318與漢族人銀屑病發(fā)病年齡有明顯相關性。3. SNP rs1265181與漢族人銀屑病的家族史、皮損類型可能無明顯相關性。
[Abstract]:Background: Psoriasis is a common, chronic papular and scaly skin disease. Psoriasis vulgaris accounts for more than 90% of the total number of patients. Genetic epidemiology and twin studies have shown that the occurrence of psoriasis is not only related to environmental factors, but also highly hereditary.
Based on the previous studies of the psoriasis susceptibility gene GWA in the Han population, we conducted further studies and found that the IL23R gene polymorphism rs3762318 was associated with the psoriasis susceptibility in the Han population.
Objective: To explore the correlation between SNP rs3762318 and the clinical phenotype of psoriasis vulgaris in Chinese Han population by stratifying the age of onset of psoriasis, family history and skin lesion types.
Methods: A uniformly designed questionnaire was used to collect 2883 psoriasis cases and 6180 controls by specially trained epidemiologists. The genotyping data of IL23R gene polymorphism rs3762318 locus in all subjects (1 031 of them) were analyzed. Illumina 610 was used for genotyping in 117 normal controls, and Taqman genotyping platform was used for genotyping in 1852 patients and 5063 normal controls.
Results: 1. There were significant differences in the genotype and allele frequencies of rs3762318 between the case group and the control group (P = 1.92 *10 ~(-5) and P = 2.23 *10 ~(-5), respectively). 2. There were significant differences in the genotype and allele distribution of rs3762318 locus between the children and the control group (_~2 = 25.37, DF = 2, P = 3.09 *10 ~(-6)). (96~2 = 9.83, DF = 2, P = 7.0 * 10 ~ (- 3); 96~2 = 6.75, DF = 1, P = 9.17 * 10 ~ (-7), OR 1.49, 95% CI 1.27-1.75, OR 1.49, 95% CI 1.27-1.75-1.75). There were significant differences in the distribution of rs37628 locus genotype and alleles between adult patients and controls (96~2 = 9.83, DF = 2, DF = 2, P = 7.0 * 10 ~ (-3); 96~2 = 6.75, DF = 1, DF = 1, P = 9.0 x 10 ~ (-3), OR 1.04, 95% CI 1.morbidity There were significant differences in genotype and allele distribution of rs37628 locus between the patients (_~2=8.25, df=2, P=0.0016; _~2=7.95, df=1, P=0.005, OR 1.29, 95% CI 1.08-1.54). 3. Compared with the control group, there were significant differences in the distribution of rs37628 polymorphism genotype and allele (_~2=10.27, df=2, P=6.0 *10-3). 967~2 = 16.13, DF = 2, P = 3.15 x 10-4; 96~2 = 12.37, DF = 1, P = 12.37, DF = 1, P = 4.35 x 10-4, OR 1.30, 95% CI 1.10-1.10-1.53. There were also significant differences in the genotype and allele distribution of rs37628 loci between family history negative patients and controls (96~2 = 16.13, DF = 2 = 2, DF = 2, P = 3.15 x 10-4, P = 12.37, DF = 1, P = 4.35 x 10-4, OR 1.22, 95% CI 1.22, 95% CI 1.09-1.1.1.1.36). There were also significant differences in the distribution of 62318 There was no significant difference between genotype and allele distribution (96~2 = 0.74, DF = 2, DF = 2, P = 0.693; \\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\1.10 The genotype and allele distribution of rs3762318 locus were also significantly different between patients with chronic plaque type and controls (_~2=23.06, df=2, P=9.85*10~(-6); _~2=21.18, df=1, P=4.19*10~(-6), OR 1.29, 95%CI 1.16-1.44). There was no significant difference in allele distribution (_~2 = 3.85, DF = 2, P = 0.146; _~2 = 2.92, DF = 1, P = 0.087, OR 0.85, 95% CI 0.71-1.02).
Conclusion: 1. IL23R gene SNP rs3762318 may be associated with the susceptibility of psoriasis in Han nationality. 2. SNP rs3762318 is significantly associated with the age of psoriasis in Han nationality. 3. SNP rs1265181 may not be associated with the family history of psoriasis and the type of skin lesions in Han nationality.
【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】：2011
【分類號】：R758.63

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