Familial hypercholesterolaemia
hypercholesterolemia (FH) is a disorder characterized by high levels, specifically very high levels of low-density lipoprotein cholesterol, in the blood and early diseases. The most common diminish the number of functional LDL receptors in the liver or produce abnormal LDL receptors that never go to the cell surface to function properly. Since the underlying body biochemistry is slightly different in individuals with FH, their high cholesterol levels are less responsive to the kinds of cholesterol control methods which are usually more effective in people without FH. Nevertheless, treatment is usually effective.
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Across the hypercholesterolemia gene set (, , ), 75 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For familial hypercholesterolaemia, that's a pool of computationally-damaging, India-relevant, clinically-unresolved variants no one has systematically characterised.
A study that would help: Take the South-Asian-observed, European-absent, ClinVar-uncertain in , , and triage them for hypercholesterolaemia: functional assays or family segregation to move them from 'uncertain' to a real call. Each reclassified is a usable diagnostic result.