ABCA1 p.Gly455Ala

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PMID: 16086925 [PubMed] Whiting BM et al: "Candidate gene susceptibility variants predict intermediate end points but not angiographic coronary artery disease."
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113 The G455A polymorphism of the h-fibrinogen gene consistently correlates with elevated plasma fibrinogen,37 a known predictor of cardiovascular disease.38 However, the large ECTIM study found no relation between genotype and clinical outcomes although an association with severity of coronary heart disease was reported.37,39 A thermolabile variant of methylenetetrahydrofolate reductase is associated with increased accumulation of the toxic amino acid homocysteine, but despite initial reports, it has weak, if not absent, association with cardiovascular outcomes.40-42 Mechanistic considerations The explanation for widespread discrepancies between changes in intermediate phenotypes and clinical outcomes associated with genetic variants is uncertain and will require substantial future research efforts.
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ABCA1 p.Gly455Ala 16086925:113:4
status: NEW
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