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.
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[PMID 19624571] Haplotypes Encompassing the KIAA0391 and PSMA6 Gene Cluster Confer a Genetic Link for Myocardial Infarction and Coronary Artery Disease
[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 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
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[PMID 22882272] Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke.