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• W1993227670 abstract "Proteoglycans are major components of the glomerular basement membrane, being responsible for their permeability properties. Type 1 diabetic patients have an altered proteoglycan metabolism, which contributes to microvascular complications like diabetic nephropathy. Xylosyltransferase II (XT-II) is a chain-initiating enzyme in the biosynthesis of basement membrane proteoglycans and catalyzes the transfer of xylose to selected serine residues in the core protein. Thus, genetic variations in the XT-II coding gene XYLT2 might be implicated in the initiation and progression of late diabetic complications. Genotyping of 6 genetic variations in the XYLT2 gene and haplotype analysis was performed in 697 type 1 diabetic patients (358 with and 338 without diabetic nephropathy). The haplotype analysis of 6 XYLT2 polymorphisms revealed one haplotype (GATTCG) to be significantly less frequent among type 1 patients with diabetic nephropathy (p = 0.002, OR = 0.13, 95% CI = 0.03–0.59). The haplotype GATTCG consist of the XYLT2 variations c.166G>A, c.177A>G, c.342T>C, IVS6-9T>C, c.1569C>T and c.2402C>G. No genotype–phenotype interactions were revealed. Our data show that a XYLT2 haplotype is associated with nephropathy in type 1 diabetic patients." @default.
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• W1993227670 date "2008-12-01" @default.
• W1993227670 modified "2023-09-27" @default.
• W1993227670 title "Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes" @default.
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• W1993227670 doi "https://doi.org/10.1016/j.cca.2008.08.019" @default.
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