Apolipoprotein E Arg136 --> Cys in individuals with premature myocardial infarction

Coronary artery disease is a serious health problem worldwide caused by interactions between genetic and environmental risk factors. One of the candidate genes is the gene for apolipoprotein E. We present a case report of two young smoking and obese carriers (man 45 years and woman 32 years old) of the apolipoprotein E (p.Arg136Cys) mutation, but with no severe dyslipidaemias detected among 1,671 survivors (1,483 men, 188 women, aged 21-75 years) of acute coronary syndrome screened for genetic and traditional cardiovascular risk factors. Between acute coronary syndrome survivors, the mutation has not yet been described. Even though this mutation raises suspicion to be a risk factor for cardiovascular disease (based on previous publications), its frequency was very low and similar to the control population (12 detected carriers of the mutation within the 9,386 screened individuals). Therefore, whether this rare mutation is causal for the development of myocardial infarction needs to be further evaluated.