Rs1048990

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).

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).

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

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.


 * is_associated_with_disease::Myocardial infarction
 * is_associated_with_disease::Kuhnt-Junius degeneration
 * is_associated_with_disease::Age related macular degeneration
 * is_associated_with_disease::Atherosclerosis
 * is_associated_with_disease::Obesity