Schmitz C, Wattigney WA, Berenson GS, Lindpaintner K
A genetic variant of methylene-tetrahydro-folate reductase (MTHFR)
and risk of parental myocardial infarction
16th Scientific Meeting of the International Society of Hypertension
ISH Abstract Book
(Jun) 16: 1996
Elevated plasma homocysteine (H) levels have been implicated as a risk
factor
for deep venous thrombosis, stroke, and coronary heart disease. MTHFR
contributes to the enzymatic degradation of H. A recently described
point mutation (C667T) in the gene for MTHFR reportedly leads to the
synthesis of a less active and thermolabile enzyme. The mutation was
found to be associated with elevated plasma H levels in homozygous
carriers in a small sample of probands. This study investigates
whether homozygosity for the mutation in juvenile probands is
associated with an increased incidence of MI in their parents.
The C667T mutation creates an MspI restriction fragment length
polymorphism. 246 white probands from the Bogalusa Heart Study (BHS)
were genotyped for the presence of the C667T mutation. In the
subgroup with parental history of MI, 10 of 56 probands (17.9%) were
homozygous for the mutation, whereas in the subgroup without parental
history of MI 18 of 190 probands (9.5%) were homozygous for the
mutation, resulting in an odds ratio of 2.08 (95% CI: 0.90-.81, p =
0.088).
Comment: These data fail to show a statistically significant
association between the presence of the C667T mutation of MTHFR in
juvenile probands and parental risk of MI. The limited number of
probands and of clinical events in the present study limit its power,
and future, larger studies are needed to confirm these results
(Carmine Zoccali, M.D, Reggio Calabria, Italy).
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16th Scientific Meeting of the International Society of Hypertension
H: Pathophysiology :
Genetics
H: Pathophysiology :
Heart in hypertension