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Disease Markers
Volume 34, Issue 2, Pages 113-120
http://dx.doi.org/10.3233/DMA-120949

Novel ERBB Receptor Feedback Inhibitor 1 (ERRFI1) + 808 T/G Polymorphism Confers Protective Effect on Diabetic Nephropathy in a Korean Population

Ihn Suk Lee,1 Ju Hee Lee,2 Hyun Jin Kim,2 Jae Min Lee,3 Seong Kyu Lee,3 Hye Soo Kim,1 Jong Min Lee,1 Kang Seo Park,3 and Bon Jeong Ku2,4

1Department of Internal Medicine, The Catholic University College of Medicine, Daejeon, Korea
2Department of Internal Medicine, Chungnam National University School of Medicine, Daejeon, Korea
3Department of Internal Medicine, Eulji University School of Medicine, Daejeon, Korea
4Research Institute for Medical Sciences, Chungnam National University School of Medicine, Daejeon, Korea

Received 24 December 2012; Accepted 24 December 2012

Copyright © 2013 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.