To the Editor:
In the recent article by Bova et al,1 the authors describe a significant association of the “alanine/valine (A/V) polymorphism at codon 677 of the 5, 10 methylenetetrahydrofolate reductase (MTHFR) gene.” This polymorphisms was abbreviated in the title with A677V. There have been multiple studies on the impact of this so-called thermolabile variant of MTHFR and moderate hyperhomocysteinemia and/or atherosclerotic vasculopathies. The variant is characterized by a C→T transition of nucleotide 677.2 Codon 677, which is described by the authors throughout the paper, is not affected. Obviously, the authors mixed up the genetic terms nucleotide position and codon, which may confuse the reader. The common nomenclature of the MTHFR thermolabile variant is C677T, or more accurately according to the Nomenclature Working Group,3 c.677C→T.
- Copyright © 2000 by American Heart Association