Document Detail

SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy.
MedLine Citation:
PMID:  16505253     Owner:  NLM     Status:  MEDLINE    
Diabetic nephropathy is the most common cause of end-stage renal disease (ESRD). Genetic susceptibility plays an important role in the development and progression of diabetic nephropathy. Previous studies have revealed that polymorphisms in the SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) gene, which encodes solute carrier family 12 member 3, might contribute to genetic susceptibility to diabetic nephropathy and essential hypertension. In this study, we examined whether the SLC12A3 gene locus is associated with ESRD resulting from diabetic nephropathy. We genotyped 11 common single nucleotide polymorphisms (SNPs) in the SLC12A3 gene in 177 patients with ESRD due to type 2 diabetes and 184 patients with diabetic retinopathy but with no signs of renal involvement. Three SNPs (g.34372G>A [Arg913Gln], g.39143G>A, and g.41727C>T) were found to be associated with ESRD due to diabetic nephropathy. These three SNPs were in complete linkage disequilibrium. Haplotype 4 in block 2 (18806C, 21822C, 34372A, 39143A, 39240T, 39375C, and 41727T) showed a significant association with ESRD due to type 2 diabetes (P = 0.0028). These results suggest that the SLC12A3 gene locus is associated with ESRD due to diabetic nephropathy.
Jae Hyeon Kim; Hyoung Doo Shin; Byung Lae Park; Min Kyong Moon; Young Min Cho; Young Hwan Hwang; Kook Whan Oh; Seong Yeon Kim; Hong Kyu Lee; Curie Ahn; Kyong Soo Park
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Diabetes     Volume:  55     ISSN:  0012-1797     ISO Abbreviation:  Diabetes     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-02-28     Completed Date:  2006-04-19     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372763     Medline TA:  Diabetes     Country:  United States    
Other Details:
Languages:  eng     Pagination:  843-8     Citation Subset:  AIM; IM    
Department of Internal Medicine, Seoul National University Boramae Hospital, Seoul, Korea.
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MeSH Terms
Diabetic Nephropathies / genetics*
Kidney Failure, Chronic / genetics*
Middle Aged
Polymorphism, Single Nucleotide*
Receptors, Drug / genetics*
Symporters / genetics*
Reg. No./Substance:
0/Receptors, Drug; 0/SLC12A3 protein, human; 0/Symporters

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