Heart disease

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Heart disease, in SNPedia as well as for the entry in Wikipedia, is a catch-all term including medical classifications such as coronary artery disease, myocardial infarction, atherosclerosis, etc. Heart disease overall is the #1 cause of death in developed countries, typically accounting for up to 40% of all deaths.

Many SNPs have been associated with increased risk for one or more types of heart disease. Before listing many of them, though, it is worth emphasizing that the risks associated with these SNPs add "relatively little to the current capacity of traditional, non-genetic risk factors to identify individuals with a high propensity to develop heart disease"[1]. This is generally true of most SNPs associated with other diseases as well.


SNPs and genes associated with altered risk for heart disease include the following:

  • rs4665058 is associated with a 2x higher risk of sudden cardiac death, based on a GWAS study and subsequent follow up studies in European ancestry populations
  • rs10757274 and rs2383206 can double the risk of heart disease. About one in every four Caucasians are thought to carry the gene variants.
  • rs10757278 in the same region has been linked to diabetes [2]
  • ALOX5AP haplotypes are associated with risk for myocardial infarction and stroke in some European population but not others.
  • rs1800787 (T;T) homozygotes are at 6 fold higher risk for carotid atherosclerosis [PMID 9514419]. This polymorphism is known as the "C148-T" variant, and is located in at the "-148" position of the FGB gene, also known as beta fibrinogen.
  • [PMID 16278826] Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease
  • [PMID 16979000] A SNP in NOS3 predicts cardiovascular mortality in high-risk patients
  • [PMID 16957409] KLOTHO G395A polymorphism was associated with blood pressure and KLOTHO C1818T polymorphism was associated with glucose metabolism
  • rs662799 and rs3135506 are two SNPs in APOA5 reported to modulate the effects (and thus the risk) of a high fat diet on BMI and risk of heart disease
  • [PMID 18318786] 'Novel alternative transcript' haplotype (rs1676232 and rs4404477, among others, identify the haplotype) of LSAMP associated with risk of late-onset left main coronary artery disease

Myocardial infarction (heart attack) is specifically mentioned in these reports:

  • [PMID 16845397] A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population


Several studies have also reported finding no associations with SNPs previously published to be associated with certain heart diseases, including:

  • [PMID 17426274] Our null results provide no support for the hypothesis that any of the 85 genetic variants tested is a susceptibility factor for acute coronary syndromes.