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Genetic risk factors in patients with inflammatory bowel disease and vascular complications: case-control study
I E Koutroubakis1, A Sfiridaki, G Tsiolakidou
1Department of Gastroenterology University Hospital Heraklion, Crete, Greece. ktjohn@her.forthnet.gr
Insights
Genetic mutations in Factor V (FV) and plasminogen activator inhibitor (PAI)-1 may increase the risk of vascular complications in inflammatory bowel disease (IBD) patients. These genetic factors were found to be more common in IBD patients with vascular issues than in healthy individuals.
Area of Science:
- Genetics
- Gastroenterology
- Cardiology
Background:
- Inherited risk factors are implicated in inflammatory bowel disease (IBD) vascular complications.
- Investigating specific gene mutations in IBD patients with and without vascular issues is crucial.
Purpose of the Study:
- To examine the role of cardiovascular disease-associated mutations in IBD patients.
- Compare mutation carriage in IBD patients with vascular complications (IBD-VC) against IBD patients without vascular complications, thrombotic controls (TC), and healthy controls (HC).
Main Methods:
- Evaluated twelve polymorphisms in thrombophilic and vasoactive genes.
- Compared mutation frequencies across four groups: IBD-VC (n=30), IBD (n=60), TC (n=30), and HC (n=54).
Main Results:
- Factor V (FV) R506Q genotype and 506Q allele frequencies were higher in IBD-VC and TC groups compared to HC.
- Plasminogen activator inhibitor (PAI)-1 4G allele frequency was significantly higher in IBD-VC and TC groups versus IBD and HC groups.
- A trend suggested FV R506Q association with venous thrombosis and PAI-1 with arterial thrombosis.
Conclusions:
- Investigated gene polymorphisms did not differ between IBD-VC and TC groups.
- FV R506Q and PAI-1 gene polymorphisms may be linked to an increased risk of vascular complications in IBD.
Background:
Inherited risk factors have been suggested to play an important role in the pathogenesis of vascular complications of inflammatory bowel disease (IBD). The aim of the present study was to investigate the role of mutations associated with cardiovascular disease in IBD patients with or without vascular complications compared with thrombotic and healthy controls (HC).
Methods:
Twelve polymorphisms of thrombophilic and vasoactive genes were evaluated in a group of 30 IBD patients with vascular complications (IBD-VC) compared with 60 IBD patients without vascular complications, 30 thrombotic controls (TC), and 54 healthy controls, using a commercially available kit.
Results:
No significant differences between IBD-VC and TC concerning the carriage of these mutations were found. The frequencies of the factor V (FV) 506 RQ (Leiden) genotype and the 506Q allele were significantly higher in these groups than in HC (P < 0.05) but not IBD controls (P > 0.05). The allele frequency of the mutant 4G allele of the plasminogen activator inhibitor (PAI) polymorphism, similar in the IBD-VC and TC groups, was significantly higher in these groups compared with the IBD group (P = 0.03) and the HC (P = 0.001). It is noteworthy that there was a trend of association of FV R506Q polymorphism with venous thrombosis and PAI-1 gene polymorphism with arterial thrombosis.
Conclusions:
Our results suggest that the investigated gene polymorphisms do not differ in patients with IBD-VC and TC. FV R506Q and PAI-1 gene polymorphisms might be associated with the increased risk of development of vascular complications in IBD.
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