Rs1048990

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs1048990
PheGenI	rs1048990
nextbio	rs1048990
hapmap	rs1048990
1000 genomes	rs1048990
hgdp	rs1048990
ensembl	rs1048990
gopubmed	rs1048990
geneview	rs1048990
scholar	rs1048990
google	rs1048990
pharmgkb	rs1048990
gwascentral	rs1048990
openSNP	rs1048990
23andMe	rs1048990
23andMe all	rs1048990
SNP Nexus
SNPshot	rs1048990
SNPdbe	rs1048990
MSV3d	rs1048990

Gene

PSMA6

Chromosome

14

Orientation

plus

GMAF

0.1946

Position

35761675

Reference

GRCh37 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.

OMIM	602855
Desc	PROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6
Variant
Related	also

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

OMIM	602855
Desc
Variant	0001
Related	also

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

[PMID 17767904] Genetic and genomic insights into the molecular basis of atherosclerosis.

[PMID 19503741] Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.

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

[PMID 20157514] 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