| Popis: |
Although an association is considered to exist between elevated plasma homocysteine (Hcy), and both TT C677T MTHFR genotype and vascular disease, any association between the TT genotype and vascular disease is less clearly defined and remains controversial (1). Since this is not what one might expect, we examined and compared the T allele frequency and Hey level in four distinct female populations; thromboembolic and non-thromboembolic vascular patients, NTD mothers and matched NTD controls. These clinical groups were selected because thromboembolic events are the principal vascular signature of homocystinuria and the major cause of morbidity and mortality in this condition (2), and also because it allows a comparison between another clinical group (NTD mothers) reportedly having both elevated Hcy and T allele frequency (3). The present data represents the first assessment of an ongoing study into the effect of folate polymorphisms on vascular disease. The first years work (evaluation of Ca. 100 subjects) provides roughly similar numbers within each of the female cohorts, and allows an interim assessment and comparison of the various clinical groups to be made. |
