VDR基因多态性与维吾尔族糖尿病视网膜病变遗传易感性研究

Association of VDR gene polymorphisms with diabetic retinopathy in Uyghur population

目的探讨维生素D受体(VDR)基因多态性与新疆维吾尔族糖尿病视网膜病变(DR)的关系。方法应用iMLDR技术对92例无糖尿病视网膜病变患者(NDR组)、112例DR患者(DR组)和130例健康对照(NC组)VDR 4个基因位点(rs1544410、rs2228570、rs731236和rs7975232)进行基因分型。结果 DR组VDR基因的rs1544410位点CC基因型和rs731236位点AA基因型的频率高于NC组(P<0.05),rs1544410位点C等位基因和rs731236位点A等位基因的频率也高于NC组(P<0.05),rs7975232位点的AA基因型和A等位基因的频率较NC组低(P<0.05),DR组和NC组rs2228570位点的基因型和等位基因差异无统计学意义(P>0.05);NC组与NDR组、NDR组与DR组VDR 4个位点基因型和等位基因分布无统计学差异(P>0.05)。结论 VDR基因的rs1544410、rs2228570、rs7975232位点的基因多态性可能和DR的发病存在一定的相关性。rs1544410的CC基因型和C等位基因、rs731236位点的AA基因型和A等位基因可能是新疆维吾尔DR患者的易感因素(OR>1);rs7975232位点的AA基因型和A等位基因可能是新疆维吾尔族DR患者的保护因素(OR<1)。

Objective The purpose of this study was to investigate the relationship between VDR gene polymorphisms and diabetic retinopathy in Uyghur population with type 2diabetic mellitus in Xinjiang.Methods Genotyping for VDR polymorphisms at rs1544410,rs2228570,rs731236 and rs7975232loci was performed on 92Non-Diabetic Retinopathy patients,112 Diabetic Retinopathy patients and 130 Normal Controls by the iMLDR technique.Results The rs1544410 CC genotype and rs731236 AA genotype in DR group were found a increased prevalence than NC group（P〈0.05）,the frequency of the rs1544410 Callele and rs731236 Aallele were also higher in DR group compared with NC group（P〈0.05）,and the frequencies of the rs7975232 AA genoptype and A allele were lower in DR group than those NC group（P〈0.05）.There were no significant difference in genotype and allele of rs2228570 locus between DR group and NC group（P〉0.05）.There were no statistically significant differences（P〈0.05）between NC group NDR group,NDR group and DR group about the four SNPs（rs1544410,rs2228570,rs731236 and rs7975232）.Conclusion The VDR polymorphisms at rs1544410,rs731236 and rs7975232may be have association with DR patients in Uyghur population.The rs1544410 CC genotype and C allele,rs731236 AA genotype and A allele of VDR are associated with susceptibility to DR patients in Uyghur population（OR〉1）.While the rs7975232 AA genotype and A allele of VDR are protectly associated with DR patients in Uyghur population（OR〈1）.