Gene: EDNRA

Alternate names for this Gene: ET-A|ETA|ETA-R|ETAR|ETRA|MFDA|hET-AR

Gene Summary: This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4q31.22-q31.23

Description of this Gene: endothelin receptor type A

Type of Gene: protein-coding

rs6822565 in EDNRA gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs6841581 in EDNRA gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

rs6841581 in EDNRA gene and Coronary heart disease PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs6842241 in EDNRA gene and Intracranial Aneurysm PMID 22286173 2012 We identified an SNP, rs6842241, near EDNRA at chromosome 4q31.22 (combined P-value = 9.58 × 10(-9); odds ratio = 1.25), which was found to be significantly associated with IA.

rs876657388 in EDNRA gene and MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA PMID 25772936 2015 Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

rs6822565 in EDNRA gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs6841581 in EDNRA gene and Peripheral Arterial Diseases PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.

PMID 26488411 2015 Genome-Wide Association Study of Peripheral Arterial Disease in a Japanese Population.

rs10305916 in EDNRA gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6822565 in EDNRA gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs13143677 in EDNRA gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10305923 in EDNRA gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.