IL23R基因多态性与汉族人寻常型银屑病表型相关性研究
发布时间：2018-09-09 18:56
【摘要】：研究背景:银屑病是一个常见的、慢性丘疹鳞屑性皮肤疾病。其中寻常型银屑病占了患者总数的90%以上。遗传流行病学以及双生子研究证明银屑病的发生除与环境因素有关外,还具有高度的遗传性。 应用连锁分析原理,通过全基因组关联(genome wide ascioation,GWA)研究发现了多个银屑病易感基因位点。在先前汉族人群银屑病易感基因GWA研究基础上,我们进行了进一步的研究,发现IL23R基因多态性rs3762318与汉族人银屑病易感性相关。 目的:从银屑病的发病年龄、有无家族史以及皮损类型三个侧面进行分层,探讨SNP rs3762318与中国汉族人寻常型银屑病临床表型的相关性,为进一步研究银屑病的发病机制奠定基础。 方法:采用统一设计的银屑病遗传流行病学调查表和正常对照调查表,由经过专门培训的流行病学调查员以问卷调查的形式,收集银屑病病例2883例,对照6180例。所有研究对象的IL23R基因多态性rs3762318位点基因分型资料(其中1 031例患者和1 117例正常对照的基因分型采用Illumina 610芯片,其余1 852例患者和5 063例正常对照的基因分型采用生物系统Taqman基因分型平台)。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。 结果:1. SNP rs3762318基因型和等位基因的总体分布频率在病例组与对照组之间存在差异(P值分别为P=1.92×10~(-5)和P=2.23×10~(-5));2.少儿发病患者与对照比较,rs3762318位点基因型和等位基因分布差异均有统计学意义(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)。成人发病患者分别与对照比较,rs3762318位点基因型和等位基因分布差异亦具有统计学意义(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)。而且少儿发病患者和成人发病患者间rs3762318位点基因型和等位基因分布差异均有统计学意义(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.家族史阳性患者与对照比较,rs3762318多态性基因型和等位基因分布差异均有统计学意义(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)。家族史阴性患者与对照比较,rs3762318位点基因型和等位基因分布差异亦具有统计学意义(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)。家族史阳性患者和阴性患者间rs3762318位点基因型和等位基因分布差异均无统计学意义(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.急性点滴型患者与对照比较,rs3762318位点基因型和等位基因分布差异均无统计学意义(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)。慢性斑块型患者与对照比较,rs3762318位点基因型和等位基因分布差异亦具有统计学意义(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)。急性点滴型患者与慢性斑块型患者间rs3762318位点基因型和等位基因分布差异均无统计学意义(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)。 结论:1. IL23R基因SNP rs3762318可能与汉族人银屑病的易感性相关。2. SNP rs3762318与汉族人银屑病发病年龄有明显相关性。3. SNP rs1265181与汉族人银屑病的家族史、皮损类型可能无明显相关性。
[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.
【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 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.
【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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