hrvatski

Polimorfizmi PAI i TPA gena u multiploj sklerozi

Multiple sclerosis (MS) is a complex inflammatory demyelinating disease of the central nervous system with both genetic and environmental contributing factors to onset and progression of the disease. Previously published data showed impaired fibrinolysis in MS. Fibrinolysis is regulated by a balance between the key fibrinolytic enzyme tissue-type plasminogen activator (t-PA) and its inhibitor (PAI-1). In the present study, an association of the TPA Alu I/D and PAI-1 4G/5G genetic polymorphisms with MS were analysed. The study was conducted within the framework of the Central and Southern-East European Multiple Sclerosis Genetics Consortium (CSEEMSGC) which include four populations (Croatian, Slovenian, Serbian and Bosnian and Herzegovian) that share the same geographic location and has a similar ethnic background of Slavic origin. In total 885 patients and 656 ethnically matched healthy blood donors with no history of MS in their families were genotyped using PCR-RFLP method. TPA DD homozygosity was shown as protective (OR=0.79, 95% CI 0.63-0.99, P=0.037) and PAI 5G5G as risk factor (OR=1.30, 95% CI 1.01-1.66, p=0.038) for MS. The significant effect of genotype/carrier combination was detected in 5G5G/I carriers (both of these separately carry significant risk for MS) with higher OR (OR=1.39 95%CI 1.06-1.82, p=0.017) for MS than in separate analysis, suggesting a gene–gene interaction.

inhibitor plazminogen aktivatora-1 (PAI-1); multipla skleroza; polimorfizam; geni podložnosti; tkivni plazminogen aktivator (t-PA)

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