SERPINB8基因多态性与汉族人寻常型银屑病表型的相关性研究
发布时间：2018-09-17 16:47
【摘要】：研究背景银屑病(Psoriasis,OMIM*177900)是一种长期的慢性炎症性皮肤病,遗传因素与环境因素在疾病的发生发展过程中起重要的作用,据统计汉族人发病率是0.123%。寻常型银屑病(Psoriasis vulgaris,PV)是最常见的临床类型,占99%以上。本课题组通过银屑病全基因组关联分析(Genome-wide association study,GWAS)研究发现汉族人寻常型银屑病易感性与SERPINB8(rs514315)基因多态性显著相关。 目的对寻常型银屑病发病年龄、家族史及临床类型进行分层分析,在汉族人群中研究SERPINB8(rs514315)多态性与寻常型银屑病患者临床表型的相关性,为进一步探讨银屑病的发病机制提供重要的遗传学依据。 方法7,227例银屑病患者和11,313例正常对照的SERPINB8基因多态位点rs514315的基因分型(CC、CT、TT)资料一部分来源于本课题组前期的银屑病GWAS数据(包括1,031例银屑病患者和1,120例正常对照)的Illumina 610芯片基因分型结果,其他部分来源于验证1(4,338例银屑病患者和5,058例正常对照)和验证2(1,858例银屑病患者和5,135例正常对照)的Sequenom MassArray系统和Biosystems TaqMan assays基因分型分型数据。数据资料经适当转化后应用社会科学统计软件包SPSS 10.0对资料进行统计学分析。χ~2检验用于比较各组间SERPINB8基因多态位点rs514315基因型和等位基因的频率分布。 结果1.病例组与对照组的基因型频率分布总体差异具有统计学意义(χ~2 =30.22,df=2,P= 2.74×10~(-7),病例组与对照组的等位基因频率分布差异亦具有统计学意义(χ~2 =30.15,df=1,P= 3.99×10~(-8),OR 1.15,95%CI 1.09-1.20)。2.少儿发病患者与对照比较,rs514315位点基因型和等位基因分布差异均有统计学意义(χ~2=19.23,df=2,P= 6.67×10~(-5);χ~2=19.08,df=1,P=1.25×10~(-5),OR 1.21,95%CI 1.11-1.31)。成人发病患者分别与对照比较,rs514315位点基因型和等位基因分布差异亦具有统计学意义(χ~2=19.54,df=2,P=5.72×10~(-5);χ~2=19.46,df=1,P=1.02×10~(-5),OR 1.13,95%CI 1.07-1.19)。少儿发病患者和成人发病患者间rs514315位点基因型和等位基因分布差异均无统计学意义(χ~2=2.18,df=2,P=0.34;χ~2=2.10,df=1,P=0.15,OR 0.94,95%CI 0.86-1.02)。3.家族史阳性患者与对照比较,rs514315位点基因型和等位基因分布差异均有统计学意义(χ~2=17.96,df=2,P=1.26×10-4;χ~2=17.08,df=1,P=3.59×10~(-5),OR 1.19,95%CI 1.10-1.30)。家族史阴性患者与对照比较,rs514315位点基因型和等位基因分布差异亦具有统计学意义(χ~2=20.82,df=2,P=3.02×10~(-5);χ~2=20.54,df=1,P=5.84×10~(-6),OR 1.13,95%CI 1.07-1.19)。家族史阳性患者和阴性患者间rs514315位点基因型和等位基因分布差异均无统计学意义(χ~2=2.45,df=2,P=0.29;χ~2=1.31,df=1,P=0.25,OR 0.95,95%CI 0.87-1.04)。4.慢性斑块型患者与对照比较,rs514315位点基因型和等位基因频率分布总体差异均具有统计学意义(χ~2=29.62,df=2,P=3.69×10~(-7);χ~2=29.55,df=1,P=5.43×10~(-8),OR 1.16,95%CI 1.10-1.23)。急性点滴型患者与对照之间rs514315位点基因型和等位基因频率分布总体差异均具有统计学意义(χ~2=6.02,df=2,P=0.049;χ~2=6.00,df=1,P=1.4×10~(-2),OR 1.10,95%CI 1.02-1.20)。慢性斑块型患者和急性点滴型患者之间rs514315位点基因型和等位基因频率分布差异均无统计学意义(χ~2=1.31,df=2,P=0.52;χ~2=1.31,df=1,P=0.25,OR 1.05,95%CI 0.97-1.15)。 结论1. SERPINB8基因(rs514315)遗传多态性与汉族人群寻常型银屑病的易感性相联;2.SERPINB8基因(rs514315)遗传多态性与银屑病的发病年龄、有无家族史、临床发病类型无明显相关性。
[Abstract]:Background Psoriasis (OMIM * 177900) is a chronic inflammatory skin disease. Genetic and environmental factors play an important role in the occurrence and development of the disease. According to statistics, the incidence of psoriasis vulgaris (PV) is the most common clinical type, accounting for more than 99%. Genome-wide association study (GWAS) showed that the susceptibility to psoriasis vulgaris was significantly correlated with the SERPINB8 (rs514315) gene polymorphism.
Objective To study the relationship between SERPINB8 (rs514315) polymorphism and clinical phenotype of psoriasis vulgaris in Han population by stratified analysis of age, family history and clinical type of psoriasis vulgaris, and to provide important genetic basis for further study of the pathogenesis of psoriasis vulgaris.
Methods Seven hundred and twenty-seven patients with psoriasis and 11,313 normal controls were enrolled in this study. One part of the genotyping (CC, CT, TT) data of the SERPINNB8 gene polymorphism site, rs514315, was derived from the GWAS data of psoriasis (including 1,031 psoriatic patients and 1,120 normal controls), and the other part was from the results of Illumina 610 microarray genotyping. Syndrome 1 (4,338 psoriasis patients and 5,058 normal controls) and 2 (1,858 psoriasis patients and 5,135 normal controls) genotyping data of Sequenom Mass Array system and Biosystems TaqMan assays were validated. The frequency distribution of rs514315 genotype and allele of SERPINB8 polymorphic loci was compared.
Results 1. There was significant difference in genotype frequency distribution between the case group and the control group (_~2=30.22, df=2, P=2.74*10~(-7). There was also significant difference in allele frequency distribution between the case group and the control group (_~2=30.15, df=1, P=3.99*10~(-8), OR 1.15, 95% CI 1.09-1.20). 2. Compared with the control group, the incidence of childhood disease was significantly different. There were significant differences in genotype and allele distribution of 4315 loci (_~2=19.23, df=2, P=6.67 *10~(-5); _~2=19.08, df=1, P=1.25 *10~(-5), OR 1.21, 95% CI 1.11-1.31). There were also significant differences in genotype and allele distribution of rs5115 locus between adult patients and controls (_~2=19.54, df=2, P=5.72 *10). (967~2 = 2.18, DF = 2, P = 0.34; 96 ~ 2 = 2.10, DF = 1, P = 1.02 x 10-5, OR 1.13, 95% CI 1.13, 95% CI 1.07-1.19). There was no significant difference in the genotype and allele distribution of rs4315 locus between children and adultpatients (962 = 2.18, DF = 2, DF = 2, P = 2, P = 0.34; 962 = 2.10, DF = 1, P = 1, P = 0.15, P = 0.94, 95% CI 0.94, 95% CI 0.86-1.86-1.02).3.3.3.3.3.3.3.3.3.3.3.3.Locus There were significant differences in genotype and allele distribution (_~2=17.96, df=2, P=1.26*10-4; _~2=17.08, df=1, P=3.59*10-5, OR 1.19, 95% CI 1.10-1.30). There were also significant differences in genotype and allele distribution at rs5115 locus between family history negative patients and controls (_~2=20.82, df=2, P=3.02*10-5). There was no significant difference in the genotype and allele distribution of rs514315 locus between positive and negative family history patients (_~2 = 2.45, DF = 2, P = 0.29; _~2 = 1.31, DF = 1, P = 0.25, OR 0.95, 95% CI 0.87-1.04). There were significant differences in gene frequency distribution (_~2 = 29.62, DF = 2, P = 3.69 (-7); _~2 = 29.55, DF = 1, P = 5.43 (-8), OR 1.16, 95% CI 1.10-1.23). There were significant differences in genotype and allele frequency distribution of rs5115 between patients with acute drip and controls (_~2 = 6.02, DF = 2, P = 0.049). There was no significant difference in the frequency distribution of rs514315 genotype and allele between patients with chronic plaque and patients with acute drip (_~2 = 1.31, DF = 2, P = 0.52; _~2 = 1.31, DF = 1, P = 0.25, OR 1.05, 95% CI 0.97-1.15).
Conclusion 1. The genetic polymorphism of SERPINB8 gene (rs514315) is associated with the susceptibility of psoriasis vulgaris in the Han population; 2. The genetic polymorphism of SERPINB8 gene (rs514315) is associated with the age of onset of psoriasis, whether there is a family history, and there is no significant correlation between the clinical types of psoriasis.
【学位授予单位】：安徽医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R758.63
[Abstract]:Background Psoriasis (OMIM * 177900) is a chronic inflammatory skin disease. Genetic and environmental factors play an important role in the occurrence and development of the disease. According to statistics, the incidence of psoriasis vulgaris (PV) is the most common clinical type, accounting for more than 99%. Genome-wide association study (GWAS) showed that the susceptibility to psoriasis vulgaris was significantly correlated with the SERPINB8 (rs514315) gene polymorphism.
Objective To study the relationship between SERPINB8 (rs514315) polymorphism and clinical phenotype of psoriasis vulgaris in Han population by stratified analysis of age, family history and clinical type of psoriasis vulgaris, and to provide important genetic basis for further study of the pathogenesis of psoriasis vulgaris.
Methods Seven hundred and twenty-seven patients with psoriasis and 11,313 normal controls were enrolled in this study. One part of the genotyping (CC, CT, TT) data of the SERPINNB8 gene polymorphism site, rs514315, was derived from the GWAS data of psoriasis (including 1,031 psoriatic patients and 1,120 normal controls), and the other part was from the results of Illumina 610 microarray genotyping. Syndrome 1 (4,338 psoriasis patients and 5,058 normal controls) and 2 (1,858 psoriasis patients and 5,135 normal controls) genotyping data of Sequenom Mass Array system and Biosystems TaqMan assays were validated. The frequency distribution of rs514315 genotype and allele of SERPINB8 polymorphic loci was compared.
Results 1. There was significant difference in genotype frequency distribution between the case group and the control group (_~2=30.22, df=2, P=2.74*10~(-7). There was also significant difference in allele frequency distribution between the case group and the control group (_~2=30.15, df=1, P=3.99*10~(-8), OR 1.15, 95% CI 1.09-1.20). 2. Compared with the control group, the incidence of childhood disease was significantly different. There were significant differences in genotype and allele distribution of 4315 loci (_~2=19.23, df=2, P=6.67 *10~(-5); _~2=19.08, df=1, P=1.25 *10~(-5), OR 1.21, 95% CI 1.11-1.31). There were also significant differences in genotype and allele distribution of rs5115 locus between adult patients and controls (_~2=19.54, df=2, P=5.72 *10). (967~2 = 2.18, DF = 2, P = 0.34; 96 ~ 2 = 2.10, DF = 1, P = 1.02 x 10-5, OR 1.13, 95% CI 1.13, 95% CI 1.07-1.19). There was no significant difference in the genotype and allele distribution of rs4315 locus between children and adultpatients (962 = 2.18, DF = 2, DF = 2, P = 2, P = 0.34; 962 = 2.10, DF = 1, P = 1, P = 0.15, P = 0.94, 95% CI 0.94, 95% CI 0.86-1.86-1.02).3.3.3.3.3.3.3.3.3.3.3.3.Locus There were significant differences in genotype and allele distribution (_~2=17.96, df=2, P=1.26*10-4; _~2=17.08, df=1, P=3.59*10-5, OR 1.19, 95% CI 1.10-1.30). There were also significant differences in genotype and allele distribution at rs5115 locus between family history negative patients and controls (_~2=20.82, df=2, P=3.02*10-5). There was no significant difference in the genotype and allele distribution of rs514315 locus between positive and negative family history patients (_~2 = 2.45, DF = 2, P = 0.29; _~2 = 1.31, DF = 1, P = 0.25, OR 0.95, 95% CI 0.87-1.04). There were significant differences in gene frequency distribution (_~2 = 29.62, DF = 2, P = 3.69 (-7); _~2 = 29.55, DF = 1, P = 5.43 (-8), OR 1.16, 95% CI 1.10-1.23). There were significant differences in genotype and allele frequency distribution of rs5115 between patients with acute drip and controls (_~2 = 6.02, DF = 2, P = 0.049). There was no significant difference in the frequency distribution of rs514315 genotype and allele between patients with chronic plaque and patients with acute drip (_~2 = 1.31, DF = 2, P = 0.52; _~2 = 1.31, DF = 1, P = 0.25, OR 1.05, 95% CI 0.97-1.15).
Conclusion 1. The genetic polymorphism of SERPINB8 gene (rs514315) is associated with the susceptibility of psoriasis vulgaris in the Han population; 2. The genetic polymorphism of SERPINB8 gene (rs514315) is associated with the age of onset of psoriasis, whether there is a family history, and there is no significant correlation between the clinical types of psoriasis.
【学位授予单位】：安徽医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R758.63
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