rs1476046
This is a intron variant variant in the EDN1 gene.
▶Research that mentions this SNP (2)
▶Endothelin‐1 rs9296344 associates with the susceptibility of childhood primary nephrotic syndromeAssociationN=1,165Ruifeng Zhang et al.(2020)· Journal of Clinical Laboratory Analysis
In 579 childhood primary nephrotic syndrome (CPNS) patients and 586 healthy controls from a Chinese Han population, the rs9296344 SNP in the Endothelin-1 (EDN1) gene was independently associated with CPNS susceptibility (T vs C, OR = 0.71, 95% CI = 0.57-0.88, P = .001), even after adjusting for the previously identified rs5370. The C allele was more frequent in CPNS patients and may affect EDN1 expression through its location in the 3'UTR region.
▶Microarray analysis of multiple candidate genes and associated plasma proteins for nephropathy secondary to type 2 diabetes among Chinese individualsAssociationN=932Lim SC et al.(2009)· Diabetologia
A case-control candidate gene study of 932 Chinese individuals (487 diabetic nephropathy cases, 445 controls) genotyped for 914 SNPs across 43 candidate genes identified common variants in NOX4 (GGCC haplotype OR=2.05-2.48, p=0.0055), endothelin-1 (rs1476046G>A OR=1.26-1.87, p=0.0072), and NOS1 (TGTC haplotype OR=1.26-1.57, p=0.0073) associated with diabetic nephropathy, plus a rare NOX1 coding variant (rs2071756G>A, R315H) found exclusively in cases. Variants correlated with differential plasma protein concentrations.
About EDN1
This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
View all EDN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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