NM_001955.4(EDN1):c.594G>T (p.Lys198Asn) AND High density lipoprotein cholesterol level quantitative trait locus 7

Clinical significance:association (Last evaluated: Apr 1, 2008)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018132.2

Allele description [Variation Report for NM_001955.4(EDN1):c.594G>T (p.Lys198Asn)]

NM_001955.4(EDN1):c.594G>T (p.Lys198Asn)

Gene:
EDN1:endothelin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.1
Genomic location:
Preferred name:
NM_001955.4(EDN1):c.594G>T (p.Lys198Asn)
HGVS:
  • NC_000006.12:g.12296022G>T
  • NG_016196.1:g.10727G>T
  • NM_001955.4:c.594G>T
  • NP_001946.3:p.Lys198Asn
  • NC_000006.11:g.12296255G>T
  • P05305:p.Lys198Asn
Protein change:
K198N; LYS198ASN
Links:
UniProtKB: P05305#VAR_014188; OMIM: 131240.0001; dbSNP: rs5370
NCBI 1000 Genomes Browser:
rs5370
Molecular consequence:
  • NM_001955.4:c.594G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
High density lipoprotein cholesterol level quantitative trait locus 7 (HDLCQ7)
Identifiers:
MedGen: C3888126

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038411OMIMno assertion criteria providedassociation
(Apr 1, 2008)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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.

Pare G, Serre D, Brisson D, Anand SS, Montpetit A, Tremblay G, Engert JC, Hudson TJ, Gaudet D.

Am J Hum Genet. 2007 Apr;80(4):673-82. Epub 2007 Feb 21.

PubMed [citation]
PMID:
17357073
PMCID:
PMC1852704

Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease.

Wiltshire S, Powell BL, Jennens M, McCaskie PA, Carter KW, Palmer LJ, Thompson PL, McQuillan BM, Hung J, Beilby JP.

Hum Genet. 2008 Apr;123(3):307-13. doi: 10.1007/s00439-008-0481-0. Epub 2008 Feb 21.

PubMed [citation]
PMID:
18288492

Details of each submission

From OMIM, SCV000038411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a study of 103 candidate genes for coronary artery disease and associated phenotypes in the founder population of the Saguenay-Lac-Saint-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 (rs5370) was associated with lower HDL cholesterol values. Women showed a strong association between rs5370 and HDL cholesterol (P = 1.3 x 10(-5)), whereas in men no such significant association was identified (P = 0.14).

Wiltshire et al. (2008) analyzed the K198N polymorphism of the EDN1 gene in 1,109 individuals from the general population of Western Australia and 556 patients with coronary artery disease, and found no association with HDL levels in either population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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