|(G;T)||1.2||possibly lower HDL cholesterol in women|
|(T;T)||1.2||possibly lower HDL cholesterol in women|
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).[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 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
|Disease||High density lipoprotein cholesterol level quantitative trait locus 7|
|CLNDBN||High density lipoprotein cholesterol level quantitative trait locus 7|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
[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.
|qualified_impact||Insufficiently evaluated not reviewed|
|Trait||Circulating vasoactive peptide levels|
|Title||Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.|
|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