广东医学2019,Vol.40Issue(4):519-525,7.DOI:10.13820/j.cnki.gdyx.20182133
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
摘要
Abstract
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>0.05). The rs12150079 were completely unbalant with rs9635726 and rs9909593 (D′≥1, r2≥0.584). The rs9635726 and rs9909593 had strong linkage disequilibrium (D′=0.877, r2=0.733). Joint genotype analysis found that there was no significant difference in the distribution of 5 single haplotype (ACG, GCA, GCG, GTA, GTG) between SLE group and control group (P>0.05). The non-conditional logistic-regression model analysis showed that the haplotype had nothing to do with the incidence of SLE. Conclusion The single nucleotide polymorphism of Aiolos gene rs9909593, rs9635726 and rs12150079 is not associated with the risk of SLE in Guizhou Han population.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Key words
Aiolos gene/SLE/single nucleotide polymorphism/genotype frequency/allele frequency/linkage disequilibrium/haplotype分类
医药卫生引用本文复制引用
杨莹,杨英,陈晓红,陈林,梁翰月,罗丽,贾常莎,陈永艳,晏文..Aiolos基因多态性与贵州汉族人群系统性红斑狼疮的相关性[J].广东医学,2019,40(4):519-525,7.基金项目
贵州省卫生和计划生育委员会科技基金项目 (编号:gzwjkj2017-1-040) (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) (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) (编号:遵市科合社字 (2014)