Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians

Diabetic Medicine : a Journal of the British Diabetic Association
Johanna K WolfordR L Hanson

Abstract

The aldose reductase gene (AKR1B1) is a strong candidate for diabetic nephropathy, and the T allele at rs759853 and the Z-2 allele at an [AC]n microsatellite are associated with diabetic kidney disease in some populations. As AKR1B1 is located on 7q35, where we have previously reported linkage to diabetic nephropathy in Pima Indians, this study examined the association of AKR1B1 variants with diabetic nephropathy in this population. AKR1B1 variants were identified by sequencing and genotyped using allelic discrimination and pyrosequencing. Genotype distributions were compared between 107 cases with diabetic end-stage renal disease and 108 control subjects with diabetes for > or = 10 years and no evidence of nephropathy, and between 141 individuals with nephropathy and 416 individuals without heavy proteinuria in a family study of 257 sibships. We identified 11 AKR1B1 single nucleotide polymorphisms (SNPs) and the [AC]n microsatellite polymorphism. Three SNPs were rare and two were in 100% genotypic concordance; thus, eight polymorphisms were genotyped. No variant was associated with diabetic kidney disease in the case-control or family-based study. For example, the T allele at rs759853 had an allele frequency of 0.165 in cases ...Continue Reading

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Citations

Mar 30, 2007·Annual Review of Biomedical Engineering·Sobin Kim, Ashish Misra
Sep 21, 2013·BMC Bioinformatics·Xiaoqing Yu, Shuying Sun
Mar 12, 2011·Molecular Genetics and Metabolism·Harini A ChakkeraJohanna K Distefano
Sep 10, 2010·Molecular Genetics and Metabolism·Robert L HansonJohanna K DiStefano
May 1, 2012·American Journal of Medical Genetics. Part a·Sheri MitchellPinar Bayrak-Toydemir
Sep 30, 2018·Investigative Ophthalmology & Visual Science·Ava Grace TanJie Jin Wang
Apr 17, 2008·Advances in Therapy·Steven Leichter
May 10, 2019·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Jeffrey I MechanickGuillermo E Umpierrez
Oct 18, 2007·Current Opinion in Endocrinology, Diabetes, and Obesity

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