Aiolos基因多态性与贵州汉族人群系统性红斑狼疮的相关性  

Analysis of the correlation of Aiolos gene polymorphism with systemic lupus erythematosus in Guizhou Han population

作　　者：杨莹[1] 杨英 陈晓红[1] 陈林 梁翰月 罗丽[1] 贾常莎[1] 陈永艳[1] 晏文[1] YANG Ying;YANG Ying;CHEN Xiao-hong;CHEN Lin;IJANG Han-yue;LUO Li;JIA Chang-sha;CHEN Yong-van;YAN Wen.(Department of Dermatology,Affiliated Hospital of Medical College Zunyi,Zunyi 563003,Guizhou,China)

机构地区：[1]遵义医学院附属医院皮肤科,贵州遵义563000 [2]遵义医学院第二附属医院皮肤科,贵州遵义563000 [3]遵义市第一人民医院皮肤科,贵州遵义563002

出　　处：《广东医学》2019年第4期519-525,共7页Guangdong Medical Journal

基　　金：贵州省卫生和计划生育委员会科技基金项目(编号:gzwjkj2017-1-040);贵州省科技厅联合基金项目(编号:黔科合LH字[2015]7474号);遵义市科学技术基金项目(编号:遵市科合社字(2014)84号)

摘　　要：目的探讨贵州汉族人群Aiolos基因rs9909593、rs9635726、rs12150079位点多态性与系统性红斑狼疮(SLE)的相关性。方法采用病例对照研究,利用SNaPshot技术对贵州汉族213例SLE患者(SLE组)和187例健康对照组的Aiolos基因3个SNP位点rs9909593、rs9635726及rs12150079进行分型,比较两组间基因型频率及等位基因频率的差异,利用非条件logistic回归模型分析基因与疾病易感性的关系。结果 Aiolos rs9909593位点AG、GG、AA基因型频率和等位基因A、G频率在贵州汉族SLE组和健康对照组分别为0.437%、0.080%、0.483%和0.412%、0.064%、0.524%;0.702%、0.298和0.730%、0.270%,两组间基因型频率和等位基因频率分布差异均无统计学意义(P>0.05);Aiolos rs9635726位点CT、CC、TT基因型频率和等位基因C、T频率在贵州汉族SLE组和健康对照组分别为0.437%、0.094%、0.469%和0.422%、0.064%、0.513%;0.312%、0.688%和0.275%、0.725%,两组间基因型频率和等位基因频率分布差异均无统计学意义(P>0.05);Aiolos rs12150079位点AG、GG、AA基因型频率和等位基因A、G频率在贵州汉族SLE组和健康对照组分别为0.310%、0.042%、0.648%和0.326%、0.032%、 0.642%;0.197%、0.803%和0.195%、0.805%,两组间基因型频率和等位基因频率分布差异均无统计学意义(P>0.05)。非条件logistic回归模型分析提示rs9909593、rs9635726及rs12150079位点在加性模型、显性模型及隐性模型下均与SLE无相关(P>0.05)。这3个SNP间rs12150079与rs9635726、rs9909593存在完全连锁不平衡(D′≥1,r^2≥0.584);rs9635726与rs9909593存在强连锁不平衡(D′=0.877,r^2=0.733)。联合基因型分析发现,5种单体型(ACG、GCA、GCG、GTA、GTG)在SLE组及健康对照组中的分布差异无统计学意义(P>0.05),同时非条件logistic回归分析显示,各单体型与SLE发病均无关。结论 Aiolos基因rs9909593、rs9635726及rs12150079单核苷酸多态性可能与贵州汉族人群SLE的患病风险无相关性。Objective To investigate the correlations of the polymorphism of Aiolos gene rs9909593, rs9635726 and rs12150079 with systemic lupus erythematosus(SLE) in Guizhou Han population. Methods The case-control study was conducted on 213 SLE patients and 187 healthy controls. The 3 SNPs(rs9909593, rs9635726 and rs12150079) of Aiolos gene was analyzed by snapshot technology. The susceptibility between gene and SLE was analyzed through the non-conditional logistic-regression model. Results The frequencies of genotype AG, GG and AA in SLE group were 0.437%, 0.080% and 0.483%, respectively;and in control group were 0.412%, 0.064% and 0.524%, respectively. The frequencies of allele A and G of Aiolos rs9909593 were 0.702% and 0.298%, respectively, in SLE group;and 0.730% and 0.270%, respectively, in control group. There was no significant difference in genotype frequency or allele frequency of Aiolos rs9909593 between the two groups(P>0.05). The frequencies of genotype CT, CC and TT in SLE group were 0.437%, 0.094% and 0.469%, respectively;and in control group were 0.422%, 0.064% and 0.513%, respectively. The frequencies of C and T in SLE group were 0.312% and 0.688%, respectively;and in control group were 0.275% and 0.725 %, respectively. There was no significant difference in genotype frequency and allele frequency of Aiolos rs9635726 between the two groups(P>0.05). The frequencies of genotype AG, GG and AA of Aiolos rs12150079 in SLE group were 0.310%, 0.042% and 0.648%, respectively;and in control group were 0.326%, 0.032% and 0.642%, respectively. The frequencies of allele A and G of Aiolos rs12150079 in SLE group were 0.197% and 0.803%, respectively;and in control group were 0.195% and 0.805%, respectively. There was no significant difference in genotype frequency or allele frequency of Aiolos rs12150079 between the two groups(P>0.05). Logistic regression model analysis suggested that rs9909593, rs9635726 and rs12150079 had no significant correlation with SLE in the additive model, dominant model and implicit model(P>0.

关 键 词：Aiolos基因 系统性红斑狼疮 单核苷酸多态性 基因型频率 等位基因频率 连锁不平衡 单体型 

分 类 号：R593.241[医药卫生—内科学] R446[医药卫生—临床医学]