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The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes.
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The distribution of the (CTG)5 homozygous genotype in the no-diabetic nephropathy (DN) and clinical-DN patients was comparable, a lower frequency was found in the biopsy proven-DN patients, particularly in females. We observed a significant trend towards high frequencies of the (CTG)5 homozygous genotype with increased time on dialysis.
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Considering that approximately 40 per cent of the population are homozygous for the 5L allele of (CTG) n repeat polymorphism in CNDP1 gene and seem to be less prone to develop DN, it is needed to evaluate whether the majority of diabetic patients (who do not have the 5L-5L genotype) would be benefited from supplementation with carnosine or with a more intensive monitoring
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Compared to healthy individuals and those with diabetes but no kidney disease, patients with diabetic nephropathy exhibited lower frequencies of 5L-5L genotype and 5L allele of CNDP1 gene, suggesting that this allele might confer protection against development of kidney disease in this population.
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genetic association studies in pediatric population in Germany: Data suggest that, in pediatric patients with chronic kidney disease, the nephroprotective effect of CNDP1 Mannheim genetic variant against disease progression is not restricted to patients with diabetic nephropathy.
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The experimentally measured higher affinity of homocarnosine for the enzyme relative to l-carnosine might be explained, at least in part, by more extensive interactions inside the monomeric and dimeric hCN1's active site.
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CNDP1 and CARNS are expressed in glomeruli and tubular cells; TauT is expressed in renal epithelial cells; CDNP1 may have a role in diabetic neuropathy
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Data shows that higher carnosine content in human skeletal muscle is positively associated with insulin resistance and fasting metabolic preference for glucose.
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In gastrointestinal cancer, reduced plasma levels of CNDP1 associate with signs of catabolism and poor outcome.
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Alterations of serum carnosinase (CN1) activity has been associated with several pathological conditions, such as neurological disorders, chronic diseases and cancer
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This meta-analysis confirms that the carnosinase D18S880 microsatellite polymorphism is associated with daibetic nephropathy susceptibility, especially in the type 2 DM and the Caucasian population.
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Rs12604675-A in CNDP1 may confer susceptibility to overt proteinuria in Japanese women with type 2 diabetes.
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In this review, correlations between serum carnosine and carnosinase activity and polymorphism in CNDP1 gene are analyzed. The role of CNDP1 gene polymorphism the development of diabetic nephropathy and non-diabetic chronic kidney disease is discussed.
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Plasma levels of FLT and S100A9 proteins are up-regulated and CNDP1 levels are down-regulated in patients with glioblastoma.
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Common variants in CNDP1 and CNDP2 play a role in susceptibility to kidney disease in patients with type 2 diabetes.
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These findings provide nominal evidence supporting a role between CNDP1 variants and diabetic kidney disease.
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neither CNDP1 genotype nor the normal variation in circulating testosterone levels affects the muscular carnosine content
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Serum histidine dipeptide concentrations are not correlated to serum carnosinase activity
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CNDP1 polymorphism predicts progression to ESRD in patients with diabetic nephropathies, but only late after baseline measurements.
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CTG polymorphism of the CNDP1 gene does not affect survival of Chinese peritoneal dialysis subjects.
