Document Detail


Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians.
MedLine Citation:
PMID:  17287626     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
To investigate the role of methylene tetrahydrofolate reductase (MTHFR) (677 C-->T and 1298 A-->C), factor V (1691 G-->A), factor II (20210 G-->A) genetic polymorphisms and hyperhomocysteinemia in the aetiology of deep vein thrombosis (DVT) in 163 cases and 163 controls. Polymerase chain reaction-restriction fragment length polymorphism was used for genotyping, reverse-phase high-performance liquid chromatography for plasma homocysteine, and Student's t-test and Fisher exact tests were used for statistical analysis. Elevated mean plasma homocysteine levels were observed in DVT cases irrespective of gender differences. Homocysteine elevation above the 95th percentile of the control group associated with 9.4-fold and 7.6-fold increased risk for DVT in men and women, respectively. Genotyping showed the MTHFR 677CT/1298AC genotype (i.e. compound heterozygosity) is associated with 3.5-fold risk for thrombosis. The factor V Leiden mutation frequency was higher in DVT cases, but not statistically significant; however, genetic predisposition to this mutation was associated with early age of DVT onset. Factor II mutation was absent in cases and controls. Co-segregation of two or more risk factors was associated with 11.7-fold increased risk for thrombosis. This study projects that hyperhomocysteinemia and compound heterozygous state for MTHFR are independent risk factors for DVT among South Indians.
Authors:
Sm Naushad; Nurul Jain Jamal; R Angalena; C Krishna Prasad; A Radha Rama Devi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis     Volume:  18     ISSN:  0957-5235     ISO Abbreviation:  Blood Coagul. Fibrinolysis     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-02-08     Completed Date:  2007-05-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102551     Medline TA:  Blood Coagul Fibrinolysis     Country:  England    
Other Details:
Languages:  eng     Pagination:  113-7     Citation Subset:  IM    
Affiliation:
Center for DNA Fingerprinting and Diagnostics, Hyderabad, India.
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MeSH Terms
Descriptor/Qualifier:
Adult
Age of Onset
Case-Control Studies
Chromatography, High Pressure Liquid
Female
Genotype
Heterozygote*
Humans
Hyperhomocysteinemia / complications*
India / epidemiology
Male
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Middle Aged
Polymorphism, Single Nucleotide
Risk Factors
Sex Factors
Venous Thrombosis / etiology*
Chemical
Reg. No./Substance:
EC 1.5.1.20/Methylenetetrahydrofolate Reductase (NADPH2)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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