EDN1
LOCUS ID1906
GENE_SYMBOLEDN1
GENE NAMEendothelin 1
SYNONYMNSET1, QME, PPET1, ARCND3, HDLCQ7
CHROMOSOME6
HOMOLOGENE ID1476
microRNAsNANA
GENE SUMMARY
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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. In multi-locus analysis, six SNPs exhibited a significant association with DN four SNPs on chromosome 6p (AGER 2184A/G, LTA 252A/G, EDN1 8002G/A and AGER -429T/C) and two SNPs on chromosome 7q (NOS3 774C/T and NOS3 E298D), omnibus p = 0.033.17345061
Retinopathy1. The inflammatory cytokines and angiogenic factors IL1B, IL6, IL8, CCL2, EDN1, VEGF, and TNF are increased in the vitreous of PDR patients without an increase in IL-10. These add support to the role of inflammatory cytokines and angiogenic factors in the genesis of PDR22409294
Neuropathy1. Thus, the data strongly implicate ET1, acting via ETA receptors in the etiology of neurovascular dysfunction in experimental diabetic neuropathy. 2. In obese subjects, NOS3 4a (P=0.011) had a converse effect to NOS3 894T (P=0.043), and EDN1 8002T (P=0.035) on the prevalence of combined microangiopathy (neuropathy/retinopathy/nephropathy) vs. microangiopathy-negative subjects.8819510 , 21406182
Atherosclerosis1. Our results revealed that EDN1 rs5370 polymorphism was associated with LAS development both before and after adjustment for atherosclerosis risk factors (sex, age, body mass index, arterial hypertension, type 2 diabetes mellitus, and smoking).29849817