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rs5370

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position12296022
GeneEDN1, LOC101928281
is asnp
is mentioned by
dbSNPrs5370
ebirs5370
HLIrs5370
Exacrs5370
Varsomers5370
Maprs5370
PheGenIrs5370
hapmaprs5370
1000 genomesrs5370
hgdprs5370
ensemblrs5370
gopubmedrs5370
geneviewrs5370
scholarrs5370
googlers5370
pharmgkbrs5370
gwascentralrs5370
openSNPrs5370
23andMers5370
23andMe allrs5370
SNP Nexus

SNPshotrs5370
SNPdbers5370
MSV3drs5370
GWAS Ctlgrs5370
GMAF0.2057
Max Magnitude1.2

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 17357073OA-icon.png] 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 18806884OA-icon.png] 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.


OMIM131240
Desc
Variant0001
Relatedalso


[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
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 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 19593725OA-icon.png] Association of maternally inherited GNAS alleles with African-American male birth weight.


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


GET Evidence
EDN1-K197N
aa_change Lys197Asn
aa_change_short K197N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



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