Background: Many studies have suggested an increased risk of venous thrombo
embolism (VTE) in patients with mild hyperhomocysteinemia. The C677T mutati
on in the MTHFR gene has recently been described as a cause of mild hyperho
mocysteinemia. Objectives: To investigate the potential of the C677T mutati
on in the MTHFR gene in its homozygous state as a risk factor for VTE. Meth
ods: Case-control study design. The presence of the mutation was determined
in all consecutive patients referred from July 1994 to September 1997 and
in whom the diagnosis was duly confirmed. Analysis was carried out in a sub
group of VTE patients free from both acquired and genetic risk factors (fac
tor-V mutation and/or prothrombin gene mutation). A control group consisted
of 105 volunteer blood donors. Results: In the 366 patients with a confirm
ed VTE, 253 presented acquired risk factors and 58 were carriers of the fac
tor-V Leiden mutation and/or G20210A mutation of the prothrombin gene. in t
he remaining 55 patients, VTE was considered as 'unexplained', and the freq
uency of the C677T mutation MTHFR was 21.8% in its homozygous state and 34.
5% in its heterozygous state. in the control group, 9.5% were found homozyg
ous and 34.3% heterozygous. The odds ratio for having VTE in the presence o
f the mutation in its homozygous state was 2.9 (95% CI 1.0-8.6). Conclusion
: This study suggests that the homozygous C677T mutation in the MTHFR gene
might be a risk factor of VTE in patients with spontaneous events and witho
ut other common genetic risk factors. Copyright (C) 2000 S. Karger AG, Base
l.