Cardiology Research and Practice · 2011 · 23 citations · 17 references
MedicineCardiologyGeneticsDisease PreventionEarly DetectionPreventive CardiologyCardiovascular DiseaseCardiovascular Disease PreventionCardiovascular RiskCoronary Artery DiseaseFamilial HypercholesterolemiaGenetic RiskApoe GeneticsCardiovascular Risk DetectionCoronary Artery Disease GeneticsEarly DiagnosisGenetic Testing Of At-risk RelativesLdl Receptor Gene MutationsPcsk9 Gain-of-function MutationsPremature Coronary Artery Disease
Cardiovascular disease (CVD) is the leading cause of death in India, accounting for 28% of mortality. The average age of onset of CVD is younger (below 55 years) among Indians than in other populations. This may be due to bad lifestyle, genetic factors, or both. Hypertension, smoking, diabetes, and physical inactivity have been identified as modifiable risk factors for heart disease. Hypercholesterolemia is the most common and treatable cause of heart disease. Genetic factors that lead to hypercholesterolemia have not been fully studied in India. Familial Hypercholesterolemia results from mutations in the LDL receptor, ApoB, PCSK9, and ApoE genes. There is an urgent need to screen subjects with premature CAD and their relatives in India for the presence of FH, identify the mutations that lead to high cholesterol, and carry out cascade screening in the at-risk relatives. Those harbouring mutations in the above genes can be treated to lower the cholesterol levels, prevent early CVD, and avoid death. A programme based on these lines has been initiated in Delhi.
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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations
Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update
Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations