rs4892247
This is a intron variant variant in the CNDP1 gene.
▶Research that mentions this SNP (1)
▶The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-AmericansAssociationN=2,089Caitrin W. McDonough et al.(2009)· Human Genetics
A case-control genetic association study in 1,025 African American type 2 diabetes-associated end-stage renal disease (DM-ESRD) cases and 1,064 controls identified associations with diabetic nephropathy risk in the CNDP1 and CNDP2 carnosinase genes on chromosome 18q22.3-23. rs6566810 (CNDP2) showed recessive-model association with DM-ESRD (p=0.0015, OR 2.29), rs4892247 (CNDP1) was protective (p=0.0146, OR 0.73), and multiple haplotypes showed stronger associations, particularly among non-5L-5L individuals, suggesting that the protective effect of the 5L-5L repeat genotype may be masked by risk haplotypes.
About CNDP1
This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]
View all CNDP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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