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CEP135 rs4865047 和 NPY2R rs1902491 单核苷酸多态性(SNPs)与 1 型糖尿病患者增殖性糖尿病视网膜病变的快速进展相关。

The Association of CEP135 rs4865047 and NPY2R rs1902491 Single Nucleotide Polymorphisms (SNPs) with Rapid Progression of Proliferative Diabetic Retinopathy in Patients with Type 1 Diabetes Mellitus.

机构信息

Lithuanian University of Health Sciences, Eye Clinic of Kaunas Medical Academy, Kaunas, Lithuania.

Lithuanian University of Health Sciences, Kaunas, Lithuania.

出版信息

Med Sci Monit. 2018 Dec 8;24:8891-8898. doi: 10.12659/MSM.909803.

DOI:10.12659/MSM.909803
PMID:30531682
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6295137/
Abstract

BACKGROUND Diabetic retinopathy has a varied prevalence, severity, and rate of progression. The aim of this study was to determine whether the single nucleotide polymorphisms (SNPs) of the gene encoding a 135-kD centrosomal protein CEP135 rs4865047 and the gene encoding the type 2 NPY protein NPY2R rs1902491 were associated with the development of rapidly progressive proliferative diabetic retinopathy in patients with type 1 diabetes mellitus. MATERIAL AND METHODS Patients with rapidly progressive proliferative diabetic retinopathy (n=48) were included in the study group. The control group (n=84) consisted of diabetes mellitus patients who had no proliferative diabetic retinopathy up to 15 years of diabetes duration. The reference group (n=90) included non-diabetic individuals who matched the study group by age and gender. The SNPs in the three groups were analyzed using real-time polymerase chain reaction (PCR) amplification. RESULTS The analysis of the distribution of genotypes in CEP135 rs4865047 and NPY2R rs1902491 detected significant differences only in the single nucleotide polymorphism rs4865047 genotype between the case and control group in comparison to the reference group. The co-dominant model showed that CEP135 rs4865047 was significantly associated with patients with rapidly progressive proliferative diabetic retinopathy (OR 7.2, 95% CI, 2.28-22.74, p=0.001). No significant association was found for the NPY2R SNP rs1902491 genotype. CONCLUSIONS Our study reports a significant association of the CEP135 single nucleotide polymorphism rs4865047 genotype with rapidly progressive proliferative diabetic retinopathy and the control group. No significant association was found of the NPY2R single nucleotide polymorphism rs1902491 genotype.

摘要

背景

糖尿病视网膜病变的患病率、严重程度和进展速度各不相同。本研究旨在确定编码 135kD 中心体蛋白 CEP135 的基因(rs4865047)和编码 2 型 NPY 蛋白 NPY2R 的基因(rs1902491)的单核苷酸多态性(SNPs)是否与 1 型糖尿病患者快速进展性增生性糖尿病视网膜病变的发生有关。

材料与方法

纳入快速进展性增生性糖尿病视网膜病变患者(n=48)作为研究组。对照组(n=84)由糖尿病患者组成,这些患者在 15 年的糖尿病病程中没有发生增生性糖尿病视网膜病变。参考组(n=90)由与研究组年龄和性别相匹配的非糖尿病个体组成。使用实时聚合酶链反应(PCR)扩增分析三组中的 SNPs。

结果

CEP135 rs4865047 和 NPY2R rs1902491 基因型分布分析仅在病例组与对照组比较参考组时检测到 CEP135 rs4865047 单核苷酸多态性基因型存在显著差异。共显性模型显示,CEP135 rs4865047 与快速进展性增生性糖尿病视网膜病变患者显著相关(OR 7.2,95%CI,2.28-22.74,p=0.001)。NPY2R SNP rs1902491 基因型无显著相关性。

结论

本研究报道了 CEP135 单核苷酸多态性 rs4865047 基因型与快速进展性增生性糖尿病视网膜病变及对照组之间存在显著相关性。未发现 NPY2R 单核苷酸多态性 rs1902491 基因型的显著相关性。

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本文引用的文献

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Proteotoxic Stress Desensitizes TGF-beta Signaling Through Receptor Downregulation in Retinal Pigment Epithelial Cells.蛋白毒性应激通过视网膜色素上皮细胞中的受体下调使转化生长因子-β信号脱敏。
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