Recombinant human tissue plasminogen activator without heparin is effective in the treatment of hepatic veno-occlusive disease.

نویسندگان

  • F Gherlinzoni
  • N Vianelli
  • L Valdrè
  • L Catani
  • M Tani
  • S Tura
چکیده

less known. We assessed the MTHFR polymorphism in a nonmatched case-control study: 107 consecutive thromboembolic patients (deep venous thrombosis and pulmonary embolism), aged 54 years (range 18 to 80) and 200 healthy donors (42 years, range 25 to 54). Venous blood samples in EDTA were obtained for DNA analysis by PCR. The amplified fragments were cut with TaqI which recognized the C→T substitution. Additionally, we measured plasma homocysteine levels in fasting conditions by EIA in all the patients. The overall frequencies of the three MTHFR genotypes were similar among patients and control subjects. The thermolabile variant (Val/Val equivalent to T/T homozygosity in 677 position) was found in 13/107 (12.1%) patients and in 20/200 (10%) controls (NSD) with an odds ratio of 1.24 (CI95= 0.62.6). The heterozygous C/T (Ala/Val) frequency was 44%, both in the patients group (47/107) and in the control group (88/200), and the normal homozygous variant (C/C or Ala/Ala) occurred in 44% of the patients and 46% (92/200) of the controls. After adjustment for FV R506Q and FII G20210A mutations, the estimated risk of venous thrombosis among T/T carriers increased up to 1.33 (CI95%=0.6-2.9), but did not reach statistical significance (p=0.50). Those with abnormal genotype (T/T), have higher total homocysteine levels (11.3±4.6 μmol/L) than the others (10.1±6.6 μmol/L in C/T and 9.2±5.3 μmol/L in C/C) however, without statistical significance (p=0.19). In conclusion, our data show that homozygosity for the C677T mutation in the MTHFR is not associated with increased risk of venous thromboembolism or, at least, suggest that a big multicenter study would be necessary to obtain a definitive answer.

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عنوان ژورنال:
  • Haematologica

دوره 84 2  شماره 

صفحات  -

تاریخ انتشار 1999