PMID- 11738073
OWN - NLM
STAT- MEDLINE
DCOM- 20020123
LR  - 20190727
IS  - 0049-3848 (Print)
IS  - 0049-3848 (Linking)
VI  - 104
IP  - 5
DP  - 2001 Dec 1
TI  - Major and potential prothrombotic genotypes in a cohort of patients with venous 
      thromboembolism.
PG  - 317-24
AB  - Factor V Leiden (FVL) and the prothrombin 20210A (PT-20210A) variant are 
      well-known risk factors for venous thromboembolism (VT). The thermolabile variant 
      (TT) of the methylenetetrahydrofolate reductase (MTHFR) gene, and homozygosity 
      for the 4G allele of the promoter region of the plasminogen activator inhibitor-1 
      (PAI-1) are potential genetic polymorphisms that have not been consistently 
      associated with increased risk of VT. A case-control study was performed on 192 
      consecutive unrelated patients referred for evaluation of thrombophilia because 
      of VT and 200 healthy controls. FVL was found in 10.4% of patients compared to 
      3.0% of controls, while 6.3% of patients were carriers of the PT-20210A allele 
      compared to 2.0% of controls. The adjusted odds ratios (OR) were 5.92 and 4.03 
      for FVL (P=.001) and the PT-20210A (P=.033), respectively. The prevalence of 
      homozygotes for MTHFR (TT) and PAI-1 (4G/4G) among patients and controls were 
      13.7% versus 13.0% and 21.6% versus 23.5%, respectively (P=ns). A total of 121 
      patients underwent a complete screening for FVL, the PT-20210A, protein C (PC), 
      protein S (PS), antithrombin III (ATIII), levels of factor VIII, and 
      antiphospholipid antibodies (aPL). In 59 patients (48.8%) at least one defect was 
      found, being a single defect in 55 and combined defects in 4 patients. Plasma 
      levels of homocysteine (Hcy) were measured in 138 patients and 144 controls. 
      Subjects from both groups carrying the MTHFR-TT variant had higher Hcy levels 
      than those with the normal genotype. Hyperhomocysteinemia (HHcy) by itself is a 
      risk factor for VT (OR 4.92, P<.0001). We conclude that FVL and the PT-20210A are 
      risk factors for VT as well as Hcy levels, but the MTHFR and PAI-1 polymorphisms 
      do not appear to be associated with VT in our country.
FAU - Varela, M L
AU  - Varela ML
AD  - Department of Haematology, Thrombosis and Haemostasis, Favaloro University, 
      Buenos Aires, Argentina.
FAU - Adamczuk, Y P
AU  - Adamczuk YP
FAU - Forastiero, R R
AU  - Forastiero RR
FAU - Martinuzzo, M E
AU  - Martinuzzo ME
FAU - Cerrato, G S
AU  - Cerrato GS
FAU - Pombo, G
AU  - Pombo G
FAU - Carreras, L O
AU  - Carreras LO
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Thromb Res
JT  - Thrombosis research
JID - 0326377
RN  - 0 (factor V Leiden)
RN  - 9001-24-5 (Factor V)
RN  - 9001-26-7 (Prothrombin)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - *Alleles
MH  - Cohort Studies
MH  - Factor V/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Prothrombin/*genetics
MH  - Venous Thrombosis/*genetics
EDAT- 2001/12/12 10:00
MHDA- 2002/01/24 10:01
CRDT- 2001/12/12 10:00
PHST- 2001/12/12 10:00 [pubmed]
PHST- 2002/01/24 10:01 [medline]
PHST- 2001/12/12 10:00 [entrez]
AID - S004938480100384X [pii]
AID - 10.1016/s0049-3848(01)00384-x [doi]
PST - ppublish
SO  - Thromb Res. 2001 Dec 1;104(5):317-24. doi: 10.1016/s0049-3848(01)00384-x.