rs5370
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common |
| (G;T) | 1.2 | possibly lower HDL cholesterol in women |
| (T;T) | 1.2 | possibly lower HDL cholesterol in women |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 12296022 |
| Gene | EDN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5370 |
| dbSNP (classic) | rs5370 |
| ClinGen | rs5370 |
| ebi | rs5370 |
| HLI | rs5370 |
| Exac | rs5370 |
| Gnomad | rs5370 |
| Varsome | rs5370 |
| LitVar | rs5370 |
| Map | rs5370 |
| PheGenI | rs5370 |
| Biobank | rs5370 |
| 1000 genomes | rs5370 |
| hgdp | rs5370 |
| ensembl | rs5370 |
| geneview | rs5370 |
| scholar | rs5370 |
| rs5370 | |
| pharmgkb | rs5370 |
| gwascentral | rs5370 |
| openSNP | rs5370 |
| 23andMe | rs5370 |
| SNPshot | rs5370 |
| SNPdbe | rs5370 |
| MSV3d | rs5370 |
| GWAS Ctlg | rs5370 |
| GMAF | 0.2057 |
| Max Magnitude | 1.2 |
rs5370, also known as Lys198Asn or K198N, is a SNP in the endothelin-1 EDN1 gene on chromosome 6. The generally more common rs5370(G) allele encodes the Lys (K), and the rarer rs5370(T) allele encodes the Asn (N).
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 17357073
] Among the French-Canadian founder population of the Saguenay Lac St-Jean region of Quebec, rs5370(T) was associated with lower HDL cholesterol values in women (p = 1.3 x 10e-5), but not in men.
[PMID 18288492] In a study of 1,000+ Western Australians, no association was seen between HDL levels and rs5370.
[PMID 18663623] A study of ~400 rheumatoid arthritis patients found a 3x increase in the adjusted odds of being hypertensive for rs5370(T;T) homozygotes compared to (G;G) homozygotes (odds ratio 2.89, CI: 1.02 - 8.19, p=0.011). 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] 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 later 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 19358249] Endothelin-1 gene polymorphism and hearing impairment in elderly Japanese.
[PMID 22609442] Polymorphisms of Genes related to Endothelial cells are associated with Primary Biliary Cirrhosis patients of Cretan origin
| ClinVar | |
|---|---|
| Risk | Rs5370(T;T) |
| Alt | Rs5370(T;T) |
| Reference | Rs5370(G;G) |
| Significance | Other |
| Disease | High density lipoprotein cholesterol level quantitative trait locus 7 |
| Variation | info |
| Gene | LOC101928281 EDN1 |
| CLNDBN | High density lipoprotein cholesterol level quantitative trait locus 7 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.12296255G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018132.2, |
[PMID 17576235] The association between endothelin-1 gene polymorphisms and susceptibility to vitiligo in a Korean population.
[PMID 17938376] Effect of endothelin 1 genotype on blood pressure is dependent on physical activity or fitness levels.
[PMID 17960156] Polymorphisms in the endothelin-1 (EDN1) are associated with asthma in two populations.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19593725] Association of maternally inherited GNAS alleles with African-American male birth weight.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
High Blood Pressure (Hypertension)
| GWAS snp | |
|---|---|
| PMID | [PMID 23381795] |
| Trait | Circulating vasoactive peptide levels |
| Title | Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1. |
| Risk Allele | T |
| P-val | 1E-27 |
| Odds Ratio | 2.96 [2.42-3.49] pmol/l increase |
[PMID 23832707] Endothelin-1 gene polymorphism in sudden sensorineural hearing loss.
[PMID 24747133] Association of Endothelin-1 Gene Polymorphisms with the Clinical Phenotype in Primary Nephrotic Syndrome of Children
[PMID 24852947] Endothelin-1 Gene Polymorphisms Influence Cerebrospinal Fluid Endothelin-1 Levels Following Aneurysmal Subarachnoid Hemorrhage
[PMID 29216383] Genetic Susceptibility to Hemolytic-Uremic Syndrome after Shiga Toxin-Producing Escherichia Coli (STEC) Infection: a Centers for Disease Control and Prevention (CDC) FoodNet Study.
[PMID 29441862] Association of endothelin-1 gene single-nucleotide polymorphisms and haplotypes with risk of hormone refractory prostate cancer.
[PMID 29849817] Positive Association between EDN1 rs5370 (Lys198Asn) Polymorphism and Large Artery Stroke in a Ukrainian Population.
[PMID 31981468] Endothelin-1 rs9296344 associates with the susceptibility of childhood primary nephrotic syndrome.
