PMID- 15692239
OWN - NLM
STAT- MEDLINE
DCOM- 20050321
LR  - 20171101
IS  - 1424-8832 (Print)
IS  - 1424-8832 (Linking)
VI  - 33
IP  - 5-6
DP  - 2003 Sep-2004 Dec
TI  - Gene-gene and gene-environment interactions in mild hyperhomocysteinemia.
PG  - 337-41
AB  - Mild/moderate hyperhomocysteinemia (HHcy), a highly prevalent condition, is 
      independently associated with an increased risk of arterial and venous 
      thromboembolic diseases. Early reports of the association of mild/moderate HHcy 
      with juvenile venous thromboembolism have shown familiarity for HHcy in relatives 
      of index cases with thrombosis. Similar to inherited thrombophilia defects, 
      inheritance of the HHcy phenotype was accordingly retained important for the 
      definition of HHcy as an independent risk factor for thrombosis. A number of 
      common polymorphisms in genes coding for methylenetetrahydrofolate 
      reductase(MTHFR), methionine-synthase, methionine-synthase reductase and 
      cysthationine beta-synthase (CBS) have been explored for their association with 
      homocysteine levels, fasting and post-methionine load, and with thrombotic 
      diseases. MTHFR thermolability accounts for a 10-fold increase in the risk of 
      mild/moderate HHcy. With the possible exception of the CBS844ins68 insertion, 
      there is no evidence for an increased risk of HHcy for any of these 
      polymorphisms, isolated or in association with MTHFR thermolability. 
      Environmental factors and MTHFR thermolability are main determinants of the HHcy 
      phenotype.If mild/moderate HHcy is a pathogenetic risk factor for thrombosis, 
      intervention aimed to improve the vitamin status appears of major importance, 
      irrespective of common gene polymorphisms of the homocysteine metabolism.
FAU - D'Angelo, Armando
AU  - D'Angelo A
AD  - Coagulation Service and Thrombosis Research Unit, IRCCS H S.Raffaele, Milano, 
      Italy. armando.dangelo@hsr.it
FAU - Mazzola, Giuseppina
AU  - Mazzola G
FAU - Fermo, Isabella
AU  - Fermo I
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - Switzerland
TA  - Pathophysiol Haemost Thromb
JT  - Pathophysiology of haemostasis and thrombosis
JID - 101142710
SB  - IM
MH  - *Environment
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Hyperhomocysteinemia/*epidemiology/*genetics
MH  - Prevalence
MH  - Risk Factors
MH  - Severity of Illness Index
RF  - 79
EDAT- 2005/02/05 09:00
MHDA- 2005/03/22 09:00
CRDT- 2005/02/05 09:00
PHST- 2005/02/05 09:00 [pubmed]
PHST- 2005/03/22 09:00 [medline]
PHST- 2005/02/05 09:00 [entrez]
AID - 83824 [pii]
AID - 10.1159/000083824 [doi]
PST - ppublish
SO  - Pathophysiol Haemost Thromb. 2003 Sep-2004 Dec;33(5-6):337-41. doi: 
      10.1159/000083824.