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Member Research & Reports

Member Research & Reports

BU: Single-Gene Mutations Account for Small Percent of Elevated Cholesterol Cases

A report by an international research team that includes a Boston University School of Public Health (BUSPH) biostatistician has found that familial hypercholesterolemia (FH) — a genetic condition that causes greatly elevated levels of LDL cholesterol throughout life — accounts for less than 2 percent of severely elevated LDL in the general population.

The team also found that the risk of coronary artery disease is significantly higher in individuals with FH than in people with similarly elevated LDL levels who do not have these mutations. The findings suggest that, beyond simply measuring LDL, gene sequencing may identify individuals at very high risk who need additional preventive therapies, the authors said in the report, which was advanced by the Journal of the American College of Cardiology to coincide with a presentation at the American College of Cardiology’s 65th Annual Scientific Session.

Dr. Gina Peloso, assistant professor of biostatistics at BUSPH, is a co-lead author of the report.

The authors said follow-up studies are being conducted at the MGH and other institutions to investigate the potential impact of patients’ learning they carry an FH-associated mutation.

The study was supported by grants from the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute of the US National Institutes of Health.

To read more about the study, go to: