中国2型糖尿病患者中候选基因多态性与糖尿病视网膜病变的关联
Association of candidate gene polymorphisms with diabetic retinopathy in Chinese patients with type 2 diabetes.
作者信息
Fan Wen-Ying, Gu Hong, Yang Xiu-Fen, She Chong-Yang, Liu Xi-Pu, Liu Ning-Pu
机构信息
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing 100730, China.
Department of Ophthalmology, Lihuili Hospital, Ningbo 315010, Zhejiang Province, China.
出版信息
Int J Ophthalmol. 2020 Feb 18;13(2):301-308. doi: 10.18240/ijo.2020.02.15. eCollection 2020.
AIM
To investigate the association between a set of six candidate genes and the risk of diabetic retinopathy (DR) in an urban community cohort of Chinese patients with type 2 diabetes mellitus (T2DM).
METHODS
A population-based cross-sectional study. The diabetic subjects were recruited from an urban community in Beijing and categorized into groups of proliferative diabetic retinopathy (PDR), non-proliferative diabetic retinopathy (NPDR), or diabetic without any retinopathy (DWR) based on the fundus photography and duration of diabetes. Six candidate genes, including advanced glycation end product specific receptor (), aldose reductase (), inducible nitric oxide synthase (), pigment epithelium derived factor (), tumor necrosis factor-alpha (), and paraoxonase 1 (), were chosen based on Meta-analysis of genetic association studies for DR and biochemical pathways implicated in DR progression. The allele and genotype distribution of 21 functional single-nucleotide polymorphisms (SNPs) in those 6 candidate genes were investigated using MassARRAY genotyping system.
RESULTS
Among 1461 diabetic patients recruited from community, 569 were selected in following genotyping analysis, including 97 patients with PDR, 217 with NPDR, and 255 with DWR. For the promoter variant rs1051993 in gene, the distribution of allele and genotype in PDR group differed from that in DWR group (allele: =0.011; genotype: =0.01). Compared with DWR, patients with PDR had lower frequencies of heterozygous genotype GT (9.8% for DWR, 1% for PDR, OR: 0.10, 95%CI: 0.01-0.72) and minor allele T (4.9% for DWR, 0.5% for PDR, OR: 0.10, 95%CI: 0.01-0.75). In multivariate model, the distribution of genotype for rs1051993 in PDR group was significantly different from that in DWR group (GT GG: OR: 0.07, 95%CI: 0.01-0.61, <0.001). No association with DR was observed in other genotyped SNPs.
CONCLUSION
The data suggest a significant association of the promoter variant rs1051993 in gene with PDR in Chinese cohort with T2DM.
目的
在一组中国2型糖尿病（T2DM）患者的城市社区队列中，研究一组6个候选基因与糖尿病视网膜病变（DR）风险之间的关联。
方法
一项基于人群的横断面研究。糖尿病受试者来自北京的一个城市社区，根据眼底照片和糖尿病病程分为增殖性糖尿病视网膜病变（PDR）组、非增殖性糖尿病视网膜病变（NPDR）组或无任何视网膜病变的糖尿病（DWR）组。基于对DR的遗传关联研究和DR进展所涉及的生化途径的Meta分析，选择了6个候选基因，包括晚期糖基化终产物特异性受体（）、醛糖还原酶（）、诱导型一氧化氮合酶（）、色素上皮衍生因子（）、肿瘤坏死因子-α（）和对氧磷酶1（）。使用MassARRAY基因分型系统研究这6个候选基因中21个功能性单核苷酸多态性（SNP）的等位基因和基因型分布。
结果
在从社区招募的1461例糖尿病患者中，569例被纳入后续基因分型分析，包括97例PDR患者、217例NPDR患者和255例DWR患者。对于基因中的启动子变体rs1051993，PDR组的等位基因和基因型分布与DWR组不同（等位基因：=0.011；基因型：=0.01）。与DWR相比，PDR患者的杂合基因型GT频率较低（DWR为9.8%，PDR为1%，OR：0.10，95%CI：0.01 - 0.72），次要等位基因T频率也较低（DWR为4.9%，PDR为0.5%，OR：0.10，95%CI：0.01 - 0.75）。在多变量模型中，PDR组中rs1051993的基因型分布与DWR组显著不同（GT对GG：OR：0.07，95%CI：0.01 - 0.61，<0.001）。在其他基因分型的SNP中未观察到与DR的关联。
结论
数据表明，在中国T2DM队列中，基因中的启动子变体rs1051993与PDR存在显著关联。
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