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rs5174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 1.3x increased risk for heart disease
(A;G) 2 1.3x increased risk for heart disease
(G;G) 1 Normal risk for heart disease
ReferenceGRCh38 38.1/141
Chromosome1
Position53247055
GeneLRP8
is asnp
is mentioned by
dbSNPrs5174
ebirs5174
HLIrs5174
Exacrs5174
Varsomers5174
Maprs5174
PheGenIrs5174
hapmaprs5174
1000 genomesrs5174
hgdprs5174
ensemblrs5174
gopubmedrs5174
geneviewrs5174
scholarrs5174
googlers5174
pharmgkbrs5174
gwascentralrs5174
openSNPrs5174
23andMers5174
23andMe allrs5174
SNP Nexus

SNPshotrs5174
SNPdbers5174
MSV3drs5174
GWAS Ctlgrs5174
GMAF0.1837
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs5174 encodes a variant of the LRP8 gene, encoding the low density lipoprotein receptor-related 8 protein (or the apolipoprotein e receptor). The variant affects the protein, changing an arginine to a glutamine; depending on the publication, it can be referred to by terms like R952Q or Arg952Gln.

In three Caucasian populations combined, the odds ratio for coronary artery disease or myocardial infarction (and thus heart disease) is 1.31 (adjusted p=0.0003). Note that this association was only seen in populations with familial and premature disease, as a study of 1,231 patients with primarily late-onset, sporadic heart disease did not show any correlation with this SNP.[PMID 17847002OA-icon.png]

[PMID 18592168] rs5174 (or its equivalent, rs5177) was analyzed in 1,210 patients with familial MI and 1,015 controls from the German MI Family study, in 1,926 familial CAD (1,377 with MI) patients and 2,938 controls from the Wellcome Trust Case Control Consortium (WTCCC) MI/CAD cohort, in 346 CAD patients and 351 controls from the AtheroGene study and in 295 men with incident CAD and 301 controls from the Prospective Epidemiological Study of MI study; no evidence was found for association in any of the populations studied.


OMIM602600
Desc
Variant0001
Relatedalso


[PMID 21316997] Investigation of LRP8 gene in 1p31 QTL linked to LDL peak particle diameter in the Quebec family study


[PMID 22404453] Genetic Variant R952Q in LRP8 is Associated with Increased Plasma Triglyceride Levels in Patients with Early-Onset CAD and MI


ClinVar
Risk rs5174(A;A)
Alt rs5174(A;A)
Reference rs5174(G;G)
Significance Other
Disease Myocardial infarction 1
Variation info
Gene LRP8
CLNDBN Myocardial infarction 1
Reversed 1
HGVS NC_000001.10:g.53712727C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007411.2,



[PMID 15986317OA-icon.png] Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.


[PMID 16642433OA-icon.png] Polymorphism in maternal LRP8 gene is associated with fetal growth.


GET Evidence
LRP8-R952Q
aa_change Arg952Gln
aa_change_short R952Q
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.29011
summary



[PMID 22889673] Association analysis of LRP8 SNP rs3820198 and rs5174 with Parkinson's disease in Han Chinese population.


[PMID 26637325] Convergent Lines of Evidence Support LRP8 as a Susceptibility Gene for Psychosis.