PMID: 16086925

Whiting BM, Anderson JL, Muhlestein JB, Horne BD, Bair TL, Pearson RR, Carlquist JF
Candidate gene susceptibility variants predict intermediate end points but not angiographic coronary artery disease.
Am Heart J. 2005 Aug;150(2):243-50., [PubMed]
Sentences
No. Mutations Sentence Comment
113 ABCA1 p.Gly455Ala
X
ABCA1 p.Gly455Ala 16086925:113:4
status: NEW
view ABCA1 p.Gly455Ala details
 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. Login to comment