ANXA6基因多态性与汉族人寻常型银屑病临床表型的相关性  

Correlation of r5999556 and r53762999 polynorphism in the annexin A6 gene with some clinical phenotypes of psoriasis vulgaris in Chinese Han population

作　　者：张丽君[1,2,3] 崔婧[1,2] 秦倩[1,2] 李珊珊[1,2] 姜新[1,2] 李艳萍[3] 王培光[1,2] 周文明[1,2] 左先波[1,2] 孙良丹[1,2] 杨森[1,2] 张学军[1,2] 

机构地区：[1]安徽医科大学第一附属医院皮肤性病科皮肤病学国家重点实验室培育基地,合肥230032 [2]安徽医科大学皮肤病与性病学系,合肥230032 [3]内蒙古医学院第四附属医院皮肤性病科,包头014030

出　　处：《中国麻风皮肤病杂志》2011年第6期375-378,共4页China Journal of Leprosy and Skin Diseases

基　　金：国家自然科学基金(编号30800990;81072461;31000528)

摘　　要：目的:评价汉族人寻常型银屑病ANXA6基因多态性与临床表型的相关性。方法:选取7425例寻常型银屑病患者和11208例正常对照的ANXA6基因多态性rs999556和rs3762999位点的基因分型资料和临床资料进行分析。结果:病例组与对照组间ANXA6基因多态性rs999556和rs3762999位点的基因型和等位基因分布频率均存在差异(P<0.05);在急性点滴状患者与慢性斑块状患者间,rs999556位点的基因型分布频率存在差异(P<0.05),等位基因分布频率无差异(P>0.05);在儿童期发病与成年发病患者间、有家族史与无家族史患者间,rs999556位点的基因型和等位基因分布频率均无差异(P>0.05)。在上述临床表型间,rs3762999位点的基因型和等位基因分布频率均无差异(P>0.05)。结论:ANXA6基因多态性rs999556和rs3762999与汉族人寻常型银屑病发病的易感性相关,rs999556与该病的临床类型相关,与发病年龄和家族史不相关;rs3762999与该病的发病年龄、家族史及临床类型均不相关。Objective： To correlate rs999556 and rs3762999 polymorphism within annexin （ANX） A6 gene with some clinical phenotypes of psoriasis vuarlgaris in Chinese Han population. Method： The frequencies of genotypes and allelles of rs999556 and rs3762999 polymorphism in 7, 425 cases and 11, 208 normal controls were analyzed. The loci of rs999556 and rs3762999 were genotyped by using the Illumina Human 610 - Quad Bead Chips, Sequenom MASSArray and Biosystems TaqMan assays. Results： There was a significant difference in the frequencies of genotypes and alleles of rs999556 and rs3762999 between the cases and the controls （P 〈 0.05）. The difference in frequency of genotype of rs999556 between the patients with guttate psoriasis and the patients with plaque psoriasis was significant （ P 〈 0.05）, and no difference in the frequencies of genotypes and alleles of rs999556 between the patients at early onset of the disease and the patients at late onset of the disease, and between the patients with and without family history （ P 〉 0.05）. There was lack of significant association of rs3762999 with some phenotypes （age at onset, family history, and clinical types） （all P 〉 0.05）. Conclusion： The findings indicate the rs999556 and rs3762999 polymorphism within ANXA6 gene are correlated with the susceptibility of psoriasis vallgaris in Chinese Han population. The rs999556 polymorphism may play an important role in chronic plaque type of psoriasis.

关 键 词：银屑病 表型 基因型 多态性 

分 类 号：R758.63[医药卫生—皮肤病学与性病学]