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Revista de nefrologia, dialisis y trasplante
On-line version ISSN 2346-8548
Abstract
TOLEDO, Sabina López et al. rs2291166 TJP1 polymorphism as a marker in early stages of nephropathy in patients with Type 2 Diabetes Mellitus. Rev. nefrol. dial. traspl. [online]. 2021, vol.41, n.4, pp.21-30. ISSN 2346-8548.
Objective:
To analyze the association between the polymorphism rs2291166 of TJP1 gene, with the urine-excreted levels of GAGS as a marker of early stages of nephropathy. Methods: A 600 urine samples from newly diagnosed subjects with type 2 diabetes were analyzed, of which 203 were included. The GAGS detection in direct urine (corresponding to the first urine of the morning), was performed by albumin turbidity test and precipitation with cetylpyridinium (CPC). Results: The present study shows that 26.64% of diabetic patients are in early stages of nephropathy, corresponding to patients with a positive GAG test, being those with the highest GAGS excretion, heterozygous for the polymorphism. Conclusion: We suggest that the TJP1 polymorphism rs2291166 influences mucopolysacchariduria in type 2 diabetic patients of the Mexican population, which could be used as a valid genetic/biochemical marker for the early stages of diabetic nephropathy.
Keywords : heparan sulfate; mucopoly sacchariduria; nephropaty; glomerular permeability..