{{Rsnum
|rsid=5370
|Gene=EDN1
|Chromosome=6
|position=12296022
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.2057
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=EDN1,LOC101928281
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 62.8 | 30.1 | 7.1
| HCB | 51.1 | 40.1 | 8.8
| JPT | 52.2 | 42.5 | 5.3
| YRI | 66.4 | 30.8 | 2.7
| ASW | 71.9 | 28.1 | 0.0
| CHB | 51.1 | 40.1 | 8.8
| CHD | 54.1 | 37.6 | 8.3
| GIH | 30.7 | 45.5 | 23.8
| LWK | 77.3 | 22.7 | 0.0
| MEX | 69.0 | 27.6 | 3.4
| MKK | 65.4 | 31.4 | 3.2
| TSI | 60.8 | 36.3 | 2.9
| HapMapRevision=28
}}[http://www.genome.jp/dbget-bin/www_bget?omim+131240 omim 131240]
In a study of 103 candidate genes for coronary artery disease and associated phenotypes in the [[French-Canadian]] founder population of the Saguenay Lac
St-Jean region of Quebec, Pare et al. (2007) found that HDL cholesterol
levels were associated with a lysine-to-asparagine substitution at codon 198 (K198N) of the EDN1 gene in a sex-specific manner. The minor allele
T (Asn) of the K198N substitution (dbSNP rs5370) was associated with
lower HDL cholesterol values. Women showed a strong association between
dbSNP rs5370 and HDL cholesterol (P = 1.3 x 10(-5)), whereas in men no
such significant association was identified (P = 0.14).

{{PMID|18663623}} 3x increase in the adjusted odds of being hypertensive of [[rs5370]](T;T) homozygotes compared to (G;G) homozygotes (odds ratio 2.89, 9CI: 1.02 - 8.19). After adjustment for multiple potential confounders, haplotype analysis revealed an additive effect of the [[rs1800541]]-[[rs5370 ]] T-T haplotype on hypertension (OR = 2.96, CI: 1.28 - 6.86; p = .011), systolic blood pressure (SBP) (beta = 6.75 +/- 2.57 mm Hg; p = .009), and pulse pressure (PP) (beta = 4.37 +/- 2.12 mm Hg; p = .040)

{{PMID|18794727}} [[rs2368564]]  and [[rs5370]] reduced risk of [[edema]] (P=0.003 and P=0.028, respectively). rs1801253 with increased susceptibility to [[edema]] (P=0.034)

{{PMID|18806884|OA=1
}} [[rs5370]](T;T) genotypes were the factor most significantly associated with reduced risk of [[diabetic retinopathy]] (odds ratio = 0.19, CI: 0.07-0.53; p=0.002) and with late onset of [[type-2 diabetes]] ((T;T): 59 years; (G;G) and (G;T): 53 years; p=0.02), in a Chinese population of diabetics.

{{PMID Auto
|PMID=19358249
|Title=Endothelin-1 gene polymorphism and hearing impairment in elderly Japanese.
}}

{{PharmGKB
|RSID=rs5370
|Name_s=
|Gene_s=EDN1
|Feature=
|Evidence=PubMed ID:18794727
|Annotation=The G/G (Lys/Lys) genotype of this SNP was associated with reduced risk of edema resulting from treatment with muraglitazar (BMS-298585) relative to the T/T (Asn/Asn) genotype. The test population consisted of patients with diabetes or hyperlipidemia.
|Drugs=muraglitazar
|Drug Classes=
|Diseases=Diabetes Mellitus; Edema; Hyperlipidemias
|Curation Level=Curated
|PharmGKB Accession ID=PA163027236
}}

{{omim
|id=131240
|rsnum=5370
|variant=0001
}}

{{PMID Auto
|PMID=22609442
|Title=Polymorphisms of Genes related to Endothelial cells are associated with Primary Biliary Cirrhosis patients of Cretan origin
}}

{{ClinVar
|rsid=5370
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=12296255
|CHROM=6
|GMAF=0.2056
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05016800000015051f130100
|GENEINFO=EDN1:1906
|GENE_NAME=EDN1
|GENE_ID=1906
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.12296255G>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.7943; 0.2057
|CLNACC=RCV000018132.1
|CLNDBN=High density lipoprotein cholesterol level quantitative trait locus 7
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=131240.0001
|COMMON=1
|Disease=High density lipoprotein cholesterol level quantitative trait locus 7
}}

{{PMID Auto
|PMID=17357073
|Title=Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol.
|OA=1
}}

{{PMID Auto
|PMID=17576235
|Title=The association between endothelin-1 gene polymorphisms and susceptibility to vitiligo in a Korean population.
}}

{{PMID Auto
|PMID=17938376
|Title=Effect of endothelin 1 genotype on blood pressure is dependent on physical activity or fitness levels.
}}

{{PMID Auto
|PMID=17960156
|Title=Polymorphisms in the endothelin-1 (EDN1) are associated with asthma in two populations.
}}

{{PMID Auto
|PMID=19041386
|Title=Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
|OA=1
}}

{{PMID Auto
|PMID=19379518
|Title=Development of a fingerprinting panel using medically relevant polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=19593725
|Title=Association of maternally inherited GNAS alleles with African-American male birth weight.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{GET Evidence
|gene=EDN1
|aa_change=Lys197Asn
|aa_change_short=K197N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5370
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|nblosum100=1
|autoscore=1
|webscore=N
}}

[[High Blood Pressure (Hypertension)]]

{{PMID Auto GWAS
  |PMID=23381795
  |Trait=Circulating vasoactive peptide levels
  |Title=Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.
  |RiskAllele=T
  |Pval=1E-27
  |OR=2.96
  |ORtxt=[2.42-3.49] pmol/l increase
  }}

{{PMID Auto
|PMID=23832707
|Title=Endothelin-1 gene polymorphism in sudden sensorineural hearing loss.
}}

{{PMID Auto
|PMID=24747133
|Title=Association of Endothelin-1 Gene Polymorphisms with the Clinical Phenotype in Primary Nephrotic Syndrome of Children
}}

{{PMID Auto
|PMID=24852947
|Title=Endothelin-1 Gene Polymorphisms Influence Cerebrospinal Fluid Endothelin-1 Levels Following Aneurysmal Subarachnoid Hemorrhage
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}