SERPINB8基因多態(tài)性與漢族人尋常型銀屑病表型的相關性研究
發(fā)布時間：2018-09-17 16:47
【摘要】：研究背景銀屑病(Psoriasis,OMIM*177900)是一種長期的慢性炎癥性皮膚病,遺傳因素與環(huán)境因素在疾病的發(fā)生發(fā)展過程中起重要的作用,據(jù)統(tǒng)計漢族人發(fā)病率是0.123%。尋常型銀屑病(Psoriasis vulgaris,PV)是最常見的臨床類型,占99%以上。本課題組通過銀屑病全基因組關聯(lián)分析(Genome-wide association study,GWAS)研究發(fā)現(xiàn)漢族人尋常型銀屑病易感性與SERPINB8(rs514315)基因多態(tài)性顯著相關。 目的對尋常型銀屑病發(fā)病年齡、家族史及臨床類型進行分層分析,在漢族人群中研究SERPINB8(rs514315)多態(tài)性與尋常型銀屑病患者臨床表型的相關性,為進一步探討銀屑病的發(fā)病機制提供重要的遺傳學依據(jù)。 方法7,227例銀屑病患者和11,313例正常對照的SERPINB8基因多態(tài)位點rs514315的基因分型(CC、CT、TT)資料一部分來源于本課題組前期的銀屑病GWAS數(shù)據(jù)(包括1,031例銀屑病患者和1,120例正常對照)的Illumina 610芯片基因分型結(jié)果,其他部分來源于驗證1(4,338例銀屑病患者和5,058例正常對照)和驗證2(1,858例銀屑病患者和5,135例正常對照)的Sequenom MassArray系統(tǒng)和Biosystems TaqMan assays基因分型分型數(shù)據(jù)。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。χ~2檢驗用于比較各組間SERPINB8基因多態(tài)位點rs514315基因型和等位基因的頻率分布。 結(jié)果1.病例組與對照組的基因型頻率分布總體差異具有統(tǒng)計學意義(χ~2 =30.22,df=2,P= 2.74×10~(-7),病例組與對照組的等位基因頻率分布差異亦具有統(tǒng)計學意義(χ~2 =30.15,df=1,P= 3.99×10~(-8),OR 1.15,95%CI 1.09-1.20)。2.少兒發(fā)病患者與對照比較,rs514315位點基因型和等位基因分布差異均有統(tǒng)計學意義(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)。成人發(fā)病患者分別與對照比較,rs514315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=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)。少兒發(fā)病患者和成人發(fā)病患者間rs514315位點基因型和等位基因分布差異均無統(tǒng)計學意義(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.家族史陽性患者與對照比較,rs514315位點基因型和等位基因分布差異均有統(tǒng)計學意義(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)。家族史陰性患者與對照比較,rs514315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=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)。家族史陽性患者和陰性患者間rs514315位點基因型和等位基因分布差異均無統(tǒng)計學意義(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.慢性斑塊型患者與對照比較,rs514315位點基因型和等位基因頻率分布總體差異均具有統(tǒng)計學意義(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)。急性點滴型患者與對照之間rs514315位點基因型和等位基因頻率分布總體差異均具有統(tǒng)計學意義(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)。慢性斑塊型患者和急性點滴型患者之間rs514315位點基因型和等位基因頻率分布差異均無統(tǒng)計學意義(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)。 結(jié)論1. SERPINB8基因(rs514315)遺傳多態(tài)性與漢族人群尋常型銀屑病的易感性相聯(lián);2.SERPINB8基因(rs514315)遺傳多態(tài)性與銀屑病的發(fā)病年齡、有無家族史、臨床發(fā)病類型無明顯相關性。
[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.
【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
[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.
【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
【相似文獻】
相關期刊論文 前10條
1 孫建方;;銀屑病的免疫學研究[J];國際皮膚性病學雜志;1987年06期
2 司鳳仙;;中西醫(yī)結(jié)合治療銀屑病47例觀察報告[J];皮膚病與性病;1991年03期
3 朱樹寬;郭新;;紫草重用 善治銀屑病[J];中醫(yī)雜志;1996年08期
4 陳希林,喻康野,張曉輝;腎寶治療尋常型銀屑病1例[J];中國麻風皮膚病雜志;2005年10期
5 李淑玲;王偉;吳玉紅;;維胺酯聯(lián)合窄譜中波紫外線治療尋常型銀屑病50例[J];皮膚病與性病;2005年04期
6 李仰琪;劉利平;梁燕梅;袁春燕;;窄譜UVB治療銀屑病療效觀察[J];中國麻風皮膚病雜志;2006年06期
7 Hüfmeier U.;Lascorz J.;Traupe H. ;A. Reis;任建文;;PSORS5系統(tǒng)連鎖不平衡分析證實了SLC12A8在尋常型銀屑病易感性方面的作用[J];世界核心醫(yī)學期刊文摘(皮膚病學分冊);2006年08期
8 韓凌;黃瓊;方栩;;尋常型銀屑病繼發(fā)皮膚鱗狀細胞癌1例[J];中國麻風皮膚病雜志;2007年06期
9 吳剛;張江輝;趙俊萍;;溫陽強腎 活血化瘀治療銀屑病的經(jīng)驗[J];山西醫(yī)藥雜志(下半月刊);2008年07期
10 王如龍;介思;陳穎敏;廖方正;;針灸治療尋常型銀屑病1例[J];實用中醫(yī)藥雜志;2008年09期
相關會議論文 前10條
1 汪明華;李恒進;;尋常型銀屑病與幽門螺桿菌感染關系的初探[A];2010全國中西醫(yī)結(jié)合皮膚性病學術會議論文匯編[C];2010年
2 林新瑜;何飛;董丹丹;李科;;表皮生長因子受體在尋常型銀屑病中的表達及其意義[A];2011全國中西醫(yī)結(jié)合皮膚性病學術會議論文匯編[C];2011年
3 杜華;許旭峰;;尋常型銀屑病與骨代謝相關指標的檢測及意義[A];2011全國中西醫(yī)結(jié)合皮膚性病學術會議論文匯編[C];2011年
4 張鳳川;張英杰;王平;宋曉燕;;尋常型銀屑病治愈后臨床隨訪分析[A];2010全國中西醫(yī)結(jié)合皮膚性病學術會議論文匯編[C];2010年
5 宋聯(lián)進;胡雪慧;高天文;馬翠玲;;三聯(lián)療法治療尋常型銀屑病療效觀察[A];2011全國中西醫(yī)結(jié)合皮膚性病學術會議論文匯編[C];2011年
6 陳昭海;鄒運花;;0.05%地荼德乳膏治療尋常型銀屑病98例臨床療效報告[A];2011全國中西醫(yī)結(jié)合皮膚性病學術會議論文匯編[C];2011年
7 馬麗俐;何慧英;陶茂燦;王冬梅;吳苗;;熱、濕、瘀邪在尋常型銀屑病發(fā)病中的作用[A];2001年中國中西醫(yī)結(jié)合皮膚性病學術會議論文匯編[C];2001年
8 周冬梅;;白u，
本文編號：2246527
本文鏈接：http://sikaile.net/yixuelunwen/pifb/2246527.html
最近更新
教材專著
