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A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
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2007
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GeneticsGenetic EpidemiologyHuman PolymorphismPathologyMolecular GeneticsEpigeneticsGenetic MedicineClinical GeneticsAcute Myocardial InfarctionGenome-wide Association StudyCorrelated SnpsPublic HealthMolecular DiagnosticsCardiovascular Disease PathogenesisCardiologyAtherosclerosisVariant InterpretationMyocardial InfarctionChromosome 9P21Cardiovascular EpidemiologyCandidate Gene AnalysisGenomic MedicineEpidemiologyMolecular MedicineCoronary Heart DiseaseCardiovascular DiseaseGenetic DisorderMedical GeneticsIcelandic PatientsMedicineChromosome 9Cardiovascular GeneticsCommon Variant
Cardiovascular disease remains a global epidemic, underscoring the need for better risk assessment and treatment. The study investigates an association between myocardial infarction and a common variant on chromosome 9p21. The analysis involved 4,587 MI cases and 12,767 controls. The variant near CDKN2A and CDKN2B is strongly associated with MI, with homozygous carriers having a 1.64‑fold increased risk overall and a 2.02‑fold risk for early‑onset disease, accounting for 21% of all MI cases and 31% of early‑onset cases.
The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases and 12,767 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance. Approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardial infarction is 1.64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases.