Plasminogen activator inhibitor-1 (PAI-1) gene 4G/5G promoter polymorphism is seen in higher frequency in the Indian patients with deep vein thrombosis.
BACKGROUND
A number of prothrombotic and fibrinolytic disorders may lead to venous thrombosis. A 4G/5G polymorphism located in the promoter region of plasminogen activator inhibitor-1 (PAI-1) gene has been found to be commonly associated with the levels of PAI-1 and might be a risk factor for deep vein thrombosis (DVT). The aim of this study was to look for the potential association of this polymorphism with DVT in the Asian Indian population.


METHODS
A total of 110 consecutive patients (M:F = 62:48) with idiopathic DVT and equal number of age- and sex-matched healthy controls were the study participants. All study participants were typed for the PAI-1 4G/ 5G polymorphism, factor V Leiden, factor V Hong Kong/Cambridge mutations, and HR2 haplotype.


RESULTS
The variant allele for the PAI-1 4G/5G polymorphism showed both genotypic (P = .0013, chi(2) = 10.303; odds ratio [OR] = 3.75) as well as allelic association (P = .0004, chi(2) = 12.273; OR = 1.99) with DVT. Factor V Leiden and factor V HR2 haplotype were observed in 10 (9.0%) and 13 (11.8%) patients, respectively. None of the study participants showed the factor V Hong Kong Cambridge mutations.


CONCLUSIONS
Our study shows the association of 4G allele with DVT in Asian Indian population. The higher prevalence of 4G polymorphism in patients with DVT (compared with controls) seen in our study is in concordance with previous reports from the Caucasian population.
Akhter
Mohammed Suhail
MS
All India Institute of Medical Sciences, New Delhi, India.
Biswas
Arijit
A
Ranjan
Ravi
R
Meena
Arvind
A
Yadav
Birendra Kumar
BK
Sharma
Amit
A
Saxena
Renu
R
D020016:Activated Protein C Resistance / Q000208:ethnology / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D005006:Ethnicity / Q000235:genetics*; D005165:Factor V / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D024821:Metabolic Syndrome / Q000208:ethnology; D008875:Middle Aged; D016017:Odds Ratio; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012306:Risk; D019851:Thrombophilia / Q000208:ethnology / Q000235:genetics*; D020246:Venous Thrombosis / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C095381:factor V Leiden; D005165:Factor V