[关键词]
[摘要]
目的:探讨海南黎族2型糖尿病患者血管内皮细胞生长因子(VEGF)基因rs2010963和rs3025039的单核苷酸多态性与糖尿病视网膜病变(DR)的相关性。
方法:前瞻性研究。随机收集 2016-09/2019-10海南黎族2型糖尿病患者89例,其中非增殖期DR(NPDR)患者30例、增殖期DR(PDR)患者33例,2型糖尿病无视网膜病变(DWR)患者26例作为对照。运用聚合酶链式反应-限制性片段长度多态性技术测序法,进行VEGF基因相应位点的多态性分析,比较基因型和等位基因频率的差别。
结果:在rs2010963位点上,与DWR组比较,PDR组CC基因型显著升高(P<0.016667),PDR组CG基因型显著降低(P<0.016667),三组患者的GG基因型和C、G等位基因分布比较均无差异(P>0.05)。在rs3025039位点上,DWR组,NPDR和PDR组三组的CC、CT基因型及C、T等位基因分布均无差异(均P>0.05)。海南黎族PDR患者尿素、肌酐水平较DWR和NPDR组均显著升高(均P<0.05)。
结论:海南黎族2型糖尿病患者VEGF基因rs2010963基因多态性与DR发生有关,CC基因型可能是DR发生的遗传危险因素,增加PDR的易感性。rs2010963基因多态性对于PDR具有协同作用。
[Key word]
[Abstract]
AIM: To assess the association of vascular endothelial growth factor(VEGF)gene polymorphisms(rs2010963 and rs3025039)with diabetic retinopathy(DR)in Li nationality type 2 diabetic(T2DM)patients in Hainan.
METHODS: Prospective study. A total of 89 patients with T2DM in the Li nationality in Hainan were randomly categorized(between 09/2016 to 10/2019)into three groups, 30 patients in nonproliferative diabetic retinopathy(NPDR)group, 33 patients in proliferative diabetic retinopathy(PDR)group, and 26 patients in T2DM without retinopathy(DWR)group as control. Polymerase chain reaction-restriction fragment length polymorphism method was used to determine the polymorphism in the VEGF gene. Differences in allele frequencies and genotype frequencies between cases and controls were compared.
RESULTS: Compared with the DWR group, the CC genotype of rs2010963 polymorphic site was significantly increased(P<0.016667), and CG genotype was significantly decreased in PDR group(P<0.016667). No significant differences were detected in the frequencies of genotype GG and C, G allele distribution among the three groups(P>0.05). Meanwhile, no significant differences were detected in the frequencies of genotype CC, CT, C, and T in rs3025039 among the three groups(all P>0.05). Plasma levels of serum urea and creatinine were significantly increased in PDR group compared to DWR and NPDR groups in Li nationality group in Hainan(all P<0.05).
CONCLUSION: The polymorphism of the VEGF gene(rs2010963)is associated with DR. CC genotype may be a genetic risk factor for the development of DR, increasing susceptibility to PDR. The rs2010963 related genotype is conferred risk and associated with higher susceptibilities of PDR.
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[基金项目]
海南省卫生厅科研项目课题(No.1601032037A2003)