ZMIZ1区域单核苷酸多态性rs11593576与汉族人白癜风临床表型的相关性研究  

Association study of rs11593576 polymorphism within ZMIZ1 gene with some clinical phenotypes of vitiligo in Chinese Han population

作　　者：张好勤[1,2,3] 王培光[1,2,3] 胡大雁[1,2,3] 汤华阳[1,2,3] 张成[1,2,3] 刘建兰[1,2,3] 唐金[1,2,3] 秦倩[1,2,3] 左先波[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,皮肤科,合肥230022 [2]皮肤病学国家重点实验室培育基地,合肥230032 [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9期934-938,共5页Acta Universitatis Medicinalis Anhui

基　　金：国家自然科学基金(编号:30800990、31000528)

摘　　要：目的研究ZMIZ1基因单核苷酸多态性(SNP)rs11593576与汉族人白癜风临床表型(家族史、发病年龄、临床类型、伴发疾病)的相关性。方法利用6 585例白癜风患者和8 178例对照的Illumina 610芯片基因分型数据,采用χ2检验比较SNP rs11593576等位基因和基因型在各表型分组间的分布频率差异。结果 rs11593576等位基因分布频率在泛发型和对照组、肢端型和对照组之间差异均无统计学意义,基因型频率在泛发型与对照组之间差异无统计学意义,其余各病例组与对照组之间的差异均有统计学意义;在有家族史患者与无家族史患者之间、早发患者与晚发患者之间、有伴发疾病患者与无伴发疾病患者之间、临床类型之间,rs11593576等位基因和基因型分布频率差异均无统计学意义。结论 ZMIZ1基因rs11593576遗传多态性与汉族人白癜风发病的易感性相关(泛发型除外),但与白癜风的一些临床表型包括家族史、发病年龄、临床类型、伴发疾病可能无相关性。Objective To study the association of rs11593576 polymorphism within ZMIZ1 gene with some clinical phenotypes of vitiligo including family history,the age of onset,clinical types and associated diseases in Chinese Han population.Methods The genotyping data from genome-wide association study were analyzed in 6 585 cases and 8 178 controls using the Human 610-Quad BeadChips for vitiligo,and compared the frequencies of alleles and genotypes of rs11593576 in some clinical subgroups of vitiligo with Chi square test.Results There was statistical difference in the frequencies of alleles and genotypes of rs11593576 between clinical subgroups except universaltype and controls.However,there was no statistical difference in the frequencies of alleles and genotypes of rs11593576 between clinical subgroups.Conclusion The rs11593576 polymorphism within ZMIZ1 gene is associated with vitiligo susceptibility（except universal vitiligo）,but no correlation of rs11593576 polymorphism with some clinical phenotypes of vitiligo including family history,the age of onset,clinical types and associated diseases was observed in Chinese Han population.

关 键 词：白癜风/遗传学 单核苷酸 多态性 基因型 表型 汉族 

分 类 号：R758.41[医药卫生—皮肤病学与性病学] R394.3[医药卫生—临床医学]