Naslov
Polimorfizmi PAI i TPA gena u multiploj sklerozi
(PAI and TPA gene polymorphism in multiple sclerosis)

Autori
Ristić, Smiljana ; Starčević Čizmarević, Nada ; Sepčić, Juraj ; Živković, Maja ; Stanković, Aleksandra ; Klupka-Šarić, Inge ; Lovrečić, Luca ; Peterlin, Borut.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
The Seventh ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine ; Final Program and Abstracts / Schanfield, Moses ; Primorac, Dragan ; Vuk-Pavlović, Stanimir (ur.). - Zagreb : International Society for Applied Biological Sciences (ISABS), 2011, 274-274

Skup
Peti hrvatski kongres iz humane genetke

Mjesto i datum
Bol, otok Brač, Hrvatska, 20.06.2011. - 21.06.2011

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
inhibitor plazminogen aktivatora-1 (PAI-1); multipla skleroza; polimorfizam; geni podložnosti; tkivni plazminogen aktivator (t-PA)
(Multiple sclerosis; Plasminogen activator inhibitor-1 (PAI-1); Polymorphism; susceptibility gene; Tissue plasminogen activator (t-PA))

Sažetak
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.

Izvorni jezik
Hrvatski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA