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Novel ERBB receptor feedback inhibitor 1 (ERRFI1) + 808 T/G polymorphism confers protective effect on diabetic nephropathy in a Korean population.新型 ERBB 受体反馈抑制剂 1(ERRFI1)+808T/G 多态性赋予韩国人群糖尿病肾病的保护作用。
Dis Markers. 2013;34(2):113-24. doi: 10.3233/DMA-120949.
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The Role of ERRFI1+808T/G Polymorphism in Diabetic Nephropathy.ERRFI1+808T/G多态性在糖尿病肾病中的作用
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新型 ERBB 受体反馈抑制剂 1(ERRFI1)+808T/G 多态性赋予韩国人群糖尿病肾病的保护作用。

Novel ERBB receptor feedback inhibitor 1 (ERRFI1) + 808 T/G polymorphism confers protective effect on diabetic nephropathy in a Korean population.

机构信息

Department of Internal Medicine, The Catholic University College of Medicine, Daejeon, Korea.

出版信息

Dis Markers. 2013;34(2):113-24. doi: 10.3233/DMA-120949.

DOI:10.3233/DMA-120949
PMID:23324575
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3809977/
Abstract

BACKGROUND

The identification and characterization of the gene, ERRFI1, in diabetes has not been reported. In this study, we evaluated the relationship between ERRFI1 polymorphism and characteristics of type 2 diabetes mellitus (T2DM) in Korea.

SUBJECTS AND METHODS

We conduct a case-control study involving T2DM patients (n=342) and controls (n=473).

RESULTS

A novel single nucleotide ERRFI1 gene polymorphism at +807(T/G) was found. G genotype frequency was 40.1% in the diabetic group and 42.7% in the control group; the difference was not significant (p=0.45). In the diabetic group, the urine albumin to creatinine ratio (ACR) was lower in the G genotype than in the T genotype (P=0.004). In males with T2DM, those with the G genotype displayed lower systolic blood pressure (P=0.01) and higher glomerular filtration rate (P=0.048) compare to those with the T genotype. In females with T2DM, urine ACR was low in those with the G genotype than in those with the T genotype (P=0.02). In the diabetic group, patients who harboring T allele had a 1.81 times higher risk of diabetic nephropathy than the G allele (95% CI 1.11-2.96, P=0.02). In females with T2DM, patients who harboring T allele had a 2.12 times higher risk of diabetic nephropathy (95% CI 1.07-4.1, P=0.03).

CONCLUSIONS

We identify new loci associated with glycemic traits in diabetes and this finding indicates the potential of ERRFI1 as a novel therapeutic target of diabetic nephropathy.

摘要

背景

尚未有关于 ERRFI1 基因与糖尿病之间关系的报道。本研究旨在评估 ERRFI1 多态性与韩国 2 型糖尿病(T2DM)特征之间的关系。

方法

我们进行了一项病例对照研究,纳入了 342 例 T2DM 患者和 473 例对照者。

结果

发现了 ERRFI1 基因的一个新的 +807(T/G)单核苷酸多态性。在糖尿病组中,G 基因型频率为 40.1%,在对照组中为 42.7%;差异无统计学意义(p=0.45)。在糖尿病组中,G 基因型的尿白蛋白与肌酐比值(ACR)低于 T 基因型(P=0.004)。在男性 T2DM 患者中,G 基因型的收缩压(P=0.01)较低,肾小球滤过率(P=0.048)较高。在女性 T2DM 患者中,G 基因型的尿 ACR 低于 T 基因型(P=0.02)。在糖尿病组中,携带 T 等位基因的患者发生糖尿病肾病的风险比 G 等位基因高 1.81 倍(95%CI 1.11-2.96,P=0.02)。在女性 T2DM 患者中,携带 T 等位基因的患者发生糖尿病肾病的风险比 G 等位基因高 2.12 倍(95%CI 1.07-4.1,P=0.03)。

结论

我们发现了与糖尿病血糖特征相关的新基因座,这一发现表明 ERRFI1 作为糖尿病肾病的新型治疗靶点具有潜在价值。