rs512099
This is a intron variant variant in the NEDD4L gene.
▶Research that mentions this SNP (1)
▶Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mappingAssociationN=2,056Caitrin W. McDonough et al.(2009)· Human Genetics
This linkage and association study examined chromosome 18q21.1-23 in 223 African American families with diabetic nephropathy (DN). Fine mapping with SNPs revealed ordered subset analysis evidence for linkage (LOD 3.9, Δ P=0.0161, NPL P=0.00002) in families with earlier diabetes diagnosis. Dense SNP mapping in 1,029 DN cases and 1,027 controls identified NEDD4L (rs512099, P=0.0006, OR=0.70) and SERPINB7 (rs1720843, P=0.0017, OR=0.65) as candidate susceptibility genes for diabetic nephropathy in African Americans.
About NEDD4L
This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
View all NEDD4L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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