Clorf141、SON、GPR160基因多态性与汉族人寻常型银屑病临床表型的相关性研究

发布时间：2018-05-03 19:56

本文选题：寻常型银屑病 + 易感基因　；参考：《安徽医科大学》2015年硕士论文

【摘要】：研究背景:寻常型银屑病属于银屑病中最常见的一种,特征为红色斑块上覆白色厚层鳞屑,约占临床表型的百分之九十。银屑病病因尚不明确,目前普遍认为是由遗传、环境、免疫等多种因素相互作用引起,其中遗传因素发挥主要作用。银屑病的全球发病率约为0.1~3%。本课题组前期开展银屑病的外显子芯片研究鉴定出C1orf141(rs72933970),SON(rs3174808),GPR160(rs6444895)三个汉族人寻常型银屑病的易感基因。基因型表型相关性研究将有助于进一步揭示PV的病因和发病机制。目的:通过对PV的发病年龄、疾病严重程度、皮损类型、有无家族史等因素进行分层研究,探索C1orf141(rs72933970),SON(rs3174808),GPR160(rs6444895)的多态性与PV表型的相关性,进一步解释遗传及环境因素在PV病因、发病机制中的作用。方法:通过填写统一的银屑病调查表或者正常对照调查表获取9390病例和10800对照的临床信息。3个SNPs的基因分型资料来源于本课题组前阶段的银屑病外显子芯片研究数据。通过对数据的收集、归纳、筛选和整理,使用SPSS20.0软件中的卡方检验(χ2检验)对基因型-表型数据进行统计分析,得出P-value,OR值,95%CI(95%可信区间)。结果:1.C1orf141(rs72933970),SON(rs3174808),GPR160(rs6444895)的多态性与汉族人群寻常型银屑病发病风险存在显著相关(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)的多态性与银屑病发病时间、发病类型相关。基因型和等位基因频率分布在早发型-晚发型两组间比较,差异有统计学意义(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)。在点滴型-斑块型患者(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)组间比较,结果同样也有统计学意义。C1orf141 rs72933970等位基因频率分布除在中度、重度、中重度、点滴型这四种表型组与对照组的比较无统计学意义以外,其他各表型-对照组均有统计学意义;3.SON(rs3174808)的多态性在点滴型-斑块型患者组间等位基因频率分布有差异(P等位基因=0.025,OR等位基因=0.919,95%CI等位基因=0.854-0.990),但基因型间比较无统计学意义,除去早发型、点滴型及家族史阳性患者组外,其余各组与对照组的比较均有统计学意义;4.GPR160(rs6444895)的多态性与银屑病发病程度相关,在轻度患者-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)、轻度患者-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)组别中基因型和等位基因频率分布差异有统计学意义,在临床表型与对照组的比较中除早发型、重度患者两种表型,其他各表型-对照组间P值均小于0.05。结论:C1orf141(rs72933970),SON(rs3174808),GPR160(rs6444895)的多态性与中国汉族人群寻常型银屑病发病风险存在显著相关;其中C1orf141(rs72933970)的多态性与银屑病患者的发病时间、发病类型相关,尤其是早发型、斑块型;SON(rs3174808)的多态性与PV发病类型相关,特别是斑块型银屑病;GPR160(rs6444895)的多态性与中国汉族人PV的发病程度相关。
[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.

【学位授予单位】：安徽医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R758.63

【相似文献】