CSMD1基因多态性rs7007032与中国汉族人寻常型银屑病表型的相关性研究  

Study on association of rs7007032 polymorphism within CSMD1 gene with some clinical phenotypes of psoriasis vulgaris in Chinese Han population

作　　者：孙媛媛[1,2,3] 林艳[1,2,3] 唐彪[1,2,3] 陈日新[1,2,3] 张鹏[1,2,3] 李存涛[1,2,3] 左先波[1,2,3] 范星[1,2,3] 王培光[1,2,3] 孙良丹[1,2,3] 杨森[1,2,3] 张学军[1,2,3] 

机构地区：[1]安徽医科大学第一附属医院皮肤病研究所,合肥230022 [2]安徽医科大学第一附属医院皮肤病学国家重点实验室培育基地,合肥230022 [3]安徽医科大学皮肤病与性病学系,合肥230032

出　　处：《安徽医科大学学报》2011年第10期1050-1052,共3页Acta Universitatis Medicinalis Anhui

基　　金：国家自然科学基金项目(编号:30800990,81072461,31000528,30800610)

摘　　要：目的探讨CSMD1基因多态性rs7007032与汉族人寻常型银屑病一些临床表型(家族史、发病年龄及皮损类型)的相关性。方法结合本课题组银屑病易感基因的全基因组关联分析数据,选取7 318例银屑病患者和11 290例正常对照的CSMD1基因多态性rs7007032基因分型资料,SPSS 16.0软件对数据资料进行统计分析,χ2检验用于比较各组间rs7007032等位基因频率分布。结果在病例组与对照组之间,CSMD1基因多态性rs7007032等位基因频率分布差异有统计学意义(P=9.24×10-9),各临床表型亚组分别与对照组比较,rs7007032等位基因频率分布差异均具有统计学意义(P<1.0×10-4)。在家族史阳性和阴性患者之间、少儿发病和成人发病患者之间,rs7007032等位基因频率分布差异均有统计学意义(P<0.05);在急性点滴型和慢性斑块型患者之间,rs7007032等位基因频率分布差异无统计学意义。结论 CSMD1基因多态性rs7007032与汉族人寻常型银屑病发病的易感性相关,此外还与该疾病的家族史和发病年龄相关,但与皮损的临床类型不相关。Objective To investigate the association of rs7007032 polymorphism within CSMD1 gene and some clinical phenotypes of psoriasis vulgaris in Chinese Han population. Methods Based on the results of genome wide association study of psoriasis, the allelic frequencies of rs7007032 polymorphism were analyzed in 7 318 cases and 11 290 normal controls. The SPSS 16.0 software was used for statistical analysis. Chi square test was used for comparing allelic frequencies distribution among the groups. Results There was a statistical difference in the distribution of allelic frequencies of rs7007032 between cases and controls （P = 9.24 × 10 ^-9）. Then cases were stratified from family history, age of onset and lesion type, there were significant differences between clinical subgroups and controls（P 〈 1.0 ×10^-4）. Significant associations were found for rs7007032 of CSMD1 with family history and the pediatric onset （P 〈 0. 05 ）. However, there was no statistical difference between the gnttate and plaque cases. Conclusion The results indicate that the rs7007032 polymorphism within CSMD1 gene is associated with susceptibility of psoriasis vulgaris in Chinese Han population, also association with family history and the age of onset. However, there is no association with the rs7007032 polymorphism and the clinical type of lesions.

关 键 词：银屑病 遗传学 单核苷酸多态性 表型 CSMD1基因 

分 类 号：R758.63[医药卫生—皮肤病学与性病学] R394.3[医药卫生—临床医学]