rs9296344
This is a regulatory region variant variant in the EDN1 gene.
▶Research that mentions this SNP (1)
▶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.
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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