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

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.

• Authors: Ihn Suk Lee, Ju Hee Lee, Hyun Jin Kim, Jae Min Lee, Seong Kyu Lee, Hye Soo Kim, Jong Min Lee, Kang Seo Park, Bon Jeong Ku
• Journal: Disease markers (Dis Markers) Vol. 34 Issue 2 Pg. 113-24 ( 2013) ISSN: 1875-8630 [Electronic] United States
• PMID: 23324575 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Adaptor Proteins, Signal Transducing
• ERRFI1 protein, human
• Tumor Suppressor Proteins
• Creatinine

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Adult
• Aged
• Albuminuria (genetics)
• Asian People (genetics)
• Case-Control Studies
• Creatinine (urine)
• Diabetes Mellitus, Type 2 (complications, genetics)
• Diabetic Nephropathies (genetics)
• Female
• Gene Frequency
• Genetic Predisposition to Disease
• Glomerular Filtration Rate (genetics)
• Humans
• Male
• Middle Aged
• Polymorphism, Genetic
• Tumor Suppressor Proteins (genetics)