rs5174
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 53247055 |
| Gene | LRP8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5174 |
| dbSNP (classic) | rs5174 |
| ClinGen | rs5174 |
| ebi | rs5174 |
| HLI | rs5174 |
| Exac | rs5174 |
| Gnomad | rs5174 |
| Varsome | rs5174 |
| LitVar | rs5174 |
| Map | rs5174 |
| PheGenI | rs5174 |
| Biobank | rs5174 |
| 1000 genomes | rs5174 |
| hgdp | rs5174 |
| ensembl | rs5174 |
| geneview | rs5174 |
| scholar | rs5174 |
| rs5174 | |
| pharmgkb | rs5174 |
| gwascentral | rs5174 |
| openSNP | rs5174 |
| 23andMe | rs5174 |
| SNPshot | rs5174 |
| SNPdbe | rs5174 |
| MSV3d | rs5174 |
| GWAS Ctlg | rs5174 |
| GMAF | 0.1837 |
| Max Magnitude | 2 |
| ? | (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 17847002
]
[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.
[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 UniProtKB (protein) |
| CLNACC | RCV000007411.2, |
[PMID 15986317] Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.
[PMID 16642433] Polymorphism in maternal LRP8 gene is associated with fetal growth.
[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.
[PMID 29032149] TG haplotype in the LRP8 is associated with myocardial infarction in south Indian population.
