Rs1048990

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Orientationplus
is asnp
is mentioned by
dbSNPrs1048990
PheGenIrs1048990
nextbiors1048990
hapmaprs1048990
1000 genomesrs1048990
hgdprs1048990
ensemblrs1048990
gopubmedrs1048990
geneviewrs1048990
scholarrs1048990
googlers1048990
pharmgkbrs1048990
gwascentralrs1048990
openSNPrs1048990
23andMers1048990
23andMe allrs1048990
SNP Nexus

SNPshotrs1048990
SNPdbers1048990
MSV3drs1048990
GenePSMA6
Chromosome14
Orientationplus
GMAF0.1951
Position35761675
ReferenceGRCh37 37.1/131
Max Magnitude
Geno Mag Summary
(C;C) > 1.48x risk
(C;G) 1.48x risk
(G;G) common
? (C;C) (C;G) (G;G) 28
rs1048990, also known as the exon-1 -8C/G SNP in the PSMA6 gene, has been reported in a large study of Japanese patients to be associated with increased risk for myocardial infarction (heart disease). [PMID 16845397]

The risk allele (oriented to the dbSNP entry) is (G). The odds ratio (based on an additive model) is 1.48 (CI 1.23-1.77, p = 1.2 x 10e-5). [PMID 16845397]

[PMID 18231128] given the rarity of this variant in Caucasians, the attributable risk of rs1048990 for MI is unlikely to be great in western populations

[PMID 19272601] Various ways of calculating the association between rs1048990 and myocardial infarction all led to odds ratios of around 1.2 - 1.5 in a case-control association study on a cohort of 1,884 MI patients and 2,643 unrelated controls from the Chinese population.


[PMID 19182073] Genetic variation in the lymphotoxin-alpha pathway and the risk of ischemic stroke in European populations.

OMIM602855
DescPROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6
Variant
Relatedalso

[PMID 19624571] Haplotypes Encompassing the KIAA0391 and PSMA6 Gene Cluster Confer a Genetic Link for Myocardial Infarction and Coronary Artery Disease

OMIM602855
Desc
Variant0001
Relatedalso


[PMID 22310064] Polymorphisms of LTA, LGALS2, and PSMA6 genes and coronary atherosclerosis: a pathological study of 1503 consecutive autopsy cases


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[PMID 19753309OA-icon.png] SOD2 gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.


[PMID 20157514OA-icon.png] Positive association of common variants in CD36 with neovascular age-related macular degeneration.


[PMID 23111455] Quantitative assessment of the influence of PSMA6 variant (rs1048990) on coronary artery disease risk


[PMID 24455213] Association of obesity with proteasomal gene polymorphisms in children


[PMID 22882272] Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.