Affiliations: Department of Internal Medicine, The Catholic
University College of Medicine, Daejeon, Korea | Department of Internal Medicine, Chungnam National
University School of Medicine, Daejeon, Korea | Department of Internal Medicine, Eulji University
School of Medicine, Daejeon, Korea | Research Institute for Medical Sciences, Chungnam
National University School of Medicine, Daejeon, Korea
Note: [] Corresponding author: Bon Jeong Ku, Department of Internal
Medicine, Chungnam National University School of Medicine, 282 Munhwa-ro,
Jung-gu, Daejeon 301-721, Korea. Tel.: +82 42 280 7149; Fax: +82 42 280 7995;
E-mail: bonjeong@cnu.ac.kr
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.
Keywords: Diabetic nephropathy, ERRFI1, polymorphism, type 2 diabetes
