染色体4p14与6q27区域基因多态性与山东潍坊地区汉族人Graves病的相关性

Correlation of chromosome 4p14 and 6q27 polymorphisms with Graves disease in Weifang Han Chinese population of Shandong province

目的探讨中国山东潍坊地区汉族人群中染色体4p14区域的rs6832151与染色体6q27区域的rs9355610单核苷酸多态性(SNP)位点的等位基因频率、基因型频率分布情况及与Graves病(GD)的关系。方法采用病例-对照研究方法,应用Taq Man探针技术在ABI 7900平台上对2 382例GD患者和3 092名健康对照者的SNP位点进行等位基因分型,并进行统计分析。结果在2个SNPs位点中,染色体4p14区域的rs6832151 SNP(OR=1.27,P_(Allelic)=1.48×10-9)、6q27区域的rs9355610 SNP(OR=1.10,P_(Allelic)=1.04×10-2),分别与GD的遗传易感性相关。遗传模型分析显示rs6832151的隐性模型相关性分析结果较显著(P_(Recessive)=2.75×10-11),rs9355610的显性模型相关性分析结果较显著(P_(Dominant)=7.15×10-3),而隐性模型分析未发现显著相关(P_(Recessive)=0.130)。结论染色体4p14和6q27区域基因多态性与山东潍坊地区汉族人GD病明显相关联,rs6832151和rs9355610位点是GD发病的易感位点。

Objective To investigate the association of rs6832151 at chromosome 4p14 and rs9355610 at chromosome 6q27 gene polymorphisms with Graves disease(GD) in Weifang Han Chinese population of Shandong province. Methods A case-control study was carried out for a total of 2 382 GD patients and 3 902 controls enrolled. Genotypes of single nucleotide polymorphism(SNP) of rs6832151 at 4p14 and rs9355610 at 6q27 was genotyped by Taq Man assays on ABI7900 platform respectively. Statistical analysis was conducted with SPSS 17.0. Results We found associations between GD and the rs6832151 located in 4p14[odds ratio(OR) =1.27, P_(Allelic)=1.48× 10^(-9)] and rs9355610 located in 6q27(OR=1.10, P_(Allelic)=1.04× 10-2). Analysis of model of inheritance suggested that the recessive model should be preferred for rs6832151(P_(Recessive)=2.75× 10-11). For rs9355610, the dominant model should be preferred(P_(Dominant)=7.15× 10^(-3)), whereas analysis of recessive model showed no significant association(P_(Recessive)= 0.130). Conclusion Our findings showed that chromosome 4p14 and 6q27 polymorphisms are associated with Graves disease in Weifang Han Chinese population of Shandong province, the rs6832151 and rs9355610 were the susceptibilities sensitive loci of GD.