PMID- 23324575 OWN - NLM STAT- MEDLINE DCOM- 20130821 LR - 20221207 IS - 1875-8630 (Electronic) IS - 0278-0240 (Print) IS - 0278-0240 (Linking) VI - 34 IP - 2 DP - 2013 TI - Novel ERBB receptor feedback inhibitor 1 (ERRFI1) + 808 T/G polymorphism confers protective effect on diabetic nephropathy in a Korean population. PG - 113-24 LID - 10.3233/DMA-120949 [doi] AB - 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. FAU - Lee, Ihn Suk AU - Lee IS AD - Department of Internal Medicine, The Catholic University College of Medicine, Daejeon, Korea. FAU - Lee, Ju Hee AU - Lee JH FAU - Kim, Hyun Jin AU - Kim HJ FAU - Lee, Jae Min AU - Lee JM FAU - Lee, Seong Kyu AU - Lee SK FAU - Kim, Hye Soo AU - Kim HS FAU - Lee, Jong Min AU - Lee JM FAU - Park, Kang Seo AU - Park KS FAU - Ku, Bon Jeong AU - Ku BJ LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Dis Markers JT - Disease markers JID - 8604127 RN - 0 (Adaptor Proteins, Signal Transducing) RN - 0 (ERRFI1 protein, human) RN - 0 (Tumor Suppressor Proteins) RN - AYI8EX34EU (Creatinine) SB - IM MH - Adaptor Proteins, Signal Transducing/*genetics MH - Adult MH - Aged MH - Albuminuria/genetics MH - Asian People/genetics MH - Case-Control Studies MH - Creatinine/urine MH - Diabetes Mellitus, Type 2/complications/genetics MH - Diabetic Nephropathies/*genetics MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease MH - Glomerular Filtration Rate/genetics MH - Humans MH - Male MH - Middle Aged MH - *Polymorphism, Genetic MH - Tumor Suppressor Proteins/*genetics PMC - PMC3809977 EDAT- 2013/01/18 06:00 MHDA- 2013/08/22 06:00 PMCR- 2013/01/24 CRDT- 2013/01/18 06:00 PHST- 2013/01/18 06:00 [entrez] PHST- 2013/01/18 06:00 [pubmed] PHST- 2013/08/22 06:00 [medline] PHST- 2013/01/24 00:00 [pmc-release] AID - 9412658748853857 [pii] AID - 10.3233/DMA-120949 [doi] PST - ppublish SO - Dis Markers. 2013;34(2):113-24. doi: 10.3233/DMA-120949.