A heart attack: the moment a coronary artery closes, rather than the years it spends narrowing. Four variants come from the largest case-control study of its time; a fifth was found by watching healthy people prospectively for who had a first one.
A myocardial infarction — a heart attack — is what happens when a coronary artery closes, usually because a plaque ruptures and a clot forms over it, cutting off blood to part of the heart muscle. Coronary artery disease is the decades-long process of those arteries narrowing. This page is about the event, not the narrowing, and the genetics behind it has been able to tell the two apart.
Four of the five variants here come from Nikpay et al. 2015, at the time the largest genetic study of coronary artery disease: 60,801 cases and 123,504 controls, roughly 9.4 million variants tested across 48 contributing studies. It is a case-control design — comparing people who already have disease against people who do not — which is the design that finds most of what genetics knows about heart disease risk.
The fifth, QKI, comes from a different kind of study asking a sharper question. The CHARGE Consortium (Dehghan et al. 2016) enrolled 64,297 people who were free of heart disease and followed them forward in time, watching for who went on to have a first heart attack. That is a prospective design, and it can find something a case-control study structurally cannot: a predictor of the event happening, in people whose arteries had not yet been shown to be diseased. QKI is reported there as a novel locus for incident myocardial infarction, found because the study was built to ask exactly that question.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 7 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Sakaue S et al. 2021, Nature genetics rs932631509 (LPA), rs77330370 (FLT1), rs11191447 (BORCS7-ASMT), rs9788497 (HHIPL1), rs117598591 (near HLA-B) — PMID:34594039
Hartiala JA et al. 2021, European heart journal rs6694258 (IL6R), rs12897285 (HHIPL1) — PMID:33532862
Chest pain or pressure, often spreading to the arm, jaw or back; shortness of breath; sweating; nausea. Women, older adults and people with diabetes more often have atypical presentations — fatigue, indigestion-like discomfort, or no chest pain at all. None of that depends on a genotype, and every minute a closed artery stays closed costs heart muscle. Call emergency services rather than driving to a hospital — treatment can start in the ambulance.
This page is not a risk calculator. Five common variants, each shifting risk slightly, say nothing about whether or when a person will have a heart attack. The tools that do — blood pressure, cholesterol, smoking status, diabetes, family history, age — are the ones a clinician already uses, and they are unrelated to what is listed here.
A case-control study asks people who already have disease to look backward. A prospective study, like the one behind QKI, enrols people before anything has happened and watches forward — which means it can distinguish a variant that predicts a first event from one that merely correlates with arteries a scan would already have flagged as narrowed. That distinction is why the two study designs are described separately on this page rather than folded into one list.
Coronary artery disease — the narrowing that usually precedes this event — has its own page, with 19 variants of its own. Cholesterol, blood pressure and clotting each have variants under their own traits as well; a heart attack sits downstream of all three.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Myocardial Infarction comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 5 of 14 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Myocardial Infarction. MyGeneLog™. https://www.mygenelog.com/conditions/myocardial-infarction
No. Coronary artery disease is the narrowing of the arteries, tracked with its own 19 variants. This page is about the heart attack itself — the moment an artery closes — and rests on different studies, one of them built specifically to find a heart attack before it happens rather than disease already present.
No. Each shifts risk slightly and none is used as a predictive test. Blood pressure, cholesterol, smoking, diabetes, family history and age carry far more weight, and a clinician already has tools built on those.
It comes from a prospective study — people enrolled while healthy and followed forward for who had a first heart attack — rather than a case-control study comparing existing patients to controls. That design can catch a predictor of the event itself, which a case-control study is not built to isolate.
Call emergency services rather than driving yourself or waiting to see if it passes. Treatment can start before arrival at a hospital, and every minute a coronary artery stays closed costs heart muscle. This applies regardless of genotype.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.