Exome sequencing guides identification of individuals with hypercholesterolemia

Exome sequencing guides identification of individuals with hypercholesterolemia

Hypercholesterolemia is a genetic condition causing elevated low-density lipoprotein levels, which greatly increases the risk for cardiovascular disease. The condition often goes unnoticed because current lack of practice for screening individuals. A limited number of genetic variants in three genes (LDLR, APOB, and PCSK9) account for most of the cases of hypercholesterolemia. A new study by Abul-Husn et al. undertook exome sequencing of 50,726 individuals and integrated this data with diagnostic data from electronic health records. Thus, the authors could determine the rate of diagnosis of hypercholesterolemia when the causal variants for the disease are present. There was substantial evidence for the underdiagnosis of hypercholesterolemia – only 58% of the individuals with genetic susceptibility had been prescribed statin treatment according to electronic health records. The study also gathered evidence for the case of polygenic hypercholesterolemia, as well as hypercholesterolemia caused by other factors such as obesity.

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