Polimorfizmi gena za trombocitne antigene i P-selektin u cerebrovaskularnim poremećajima dječje i odrasle dobi

doctoral thesis

• Title (english): Platelet antigen and P-selectin gene polymorphisms in cerebrovascular disorders in children and adults
• Author: Marina Pavić
• Mentor: Renata Zadro (mentor)
• Committee member: Mirna Sučić (predsjednik povjerenstva)
• Committee member: Renata Zadro (član povjerenstva)
• Committee member: Mario Štefanović (član povjerenstva)
• Granter: University of Zagreb; Faculty of Pharmacy and Biochemistry; Zagreb
• Defense date and country: 2012-06-05, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Pharmacy; Medical Biochemistry
• Universal decimal classification (UDC): 615 - Pharmacology. Therapeutics. Toxicology

Abstract

Cerebrovaskularni poremećaji (CVP) su značajan medicinski problem u djece i odraslih. Cilj istraživanja bio je ispitati razlike u učestalostima polimorfizama gena za HPA (-1, -2, -3, -5), PSEL (S290N, N562D, V599L, T715P), mutacija FV G1691A (FVL) i FII G20210A u bolesnika s CVP-om u odnosu na kontrolnu skupinu, te utvrditi njihovu povezanost s bolešću.
Ukupno je ispitano 300 bolesnika s CVP-om (ishemijski moždani udar-iCVI, TIA) (djece-100, odraslih-200) i 200 ispitanika kontrolne skupine (djece-100, odraslih-100), uz podatke za odrasle o standardnim čimbenicima rizika. Polimorfizmi HPA genotipizirani su PCR-SSP-om i PCR-om u stvarnom vremenu, PSEL-a PCR-SSP-om, a FVL i FII G20210A PCR-RFLP-om.
U Hrvata alelne učestalosti HPA odgovaraju podacima za Europljane. Multivarijantnom regresijskom analizom u odraslih potvrđena je povezanost anamneze, hipertenzije, šećerne bolesti i alkoholizma s CVP-om, ali ne s alelom HPA-2b. U djece značajno je učestaliji genotip HPA-5a/b i alel HPA-5b u oboljelih od TIA-e u odnosu na iCVI, a u djece s genotipom GA ili s alelom A FVL, 5 puta je veća vjerojatnost oboljenja od CVP-a. Značajno učestaliji genotip GA i alel A FVL dobiven je u djece u odnosu na odrasle s CVP-om, te iCVI-om. Pomoć u predviđanju CVP-a u odraslih imaju anamneza, hipertenzija, šećerna bolest i alkoholizam, a u djece FVL.

Abstract (english)

Cerebrovascular disorders (CVD) are a significant medical problem in children and adults. The aim of this research was to examine differences in the frequency of gene polymorphisms for HPA (-1, -2, -3, -5), PSEL (S290N, N562D, V599L, T715P), FV G1691A (FVL) and FII G20210A mutations in patients with CVD as compared to the control group, and to determine their correlation with the disease.
The research included 300 patients with CVD (ischemic stroke-iCVI, TIA) (children-100, adults-200), 200 control subjects (children-100, adult-100), as well as data for standard risk factors for adults. HPA polymorphisms were genotyped using PCR-SSP and real-time PCR, PSEL by PCR-SSP, and the FVL and FII G20210A by PCR-RFLP.
The allelic frequencies of HPA in Croats correspond to the data for Europeans. Multivariate regression analysis in adults confirmed the correlation between family history, hypertension, diabetes and alcoholism with CVD, but not with the HPA-2b allele. In children, HPA-5a/b genotype and HPA-5b allele is significantly more frequent in patients with TIA as compared to iCVI, and in children with GA genotype or with A allele FVL, there is a 5 times higher likelihood of CVD disease. Significantly more frequent GA genotype and A allele FVL was obtained in children than in adults with CVD and iCVI. Help in predicting CVD in adults is provided by family history, hypertension, diabetes and alcoholism, and in children by FVL.

• Keywords: moždani udar; cerebrovaskularni poremećaj; polimorfizmi gena; HPA; PSEL; FV G1691A; FII G20210A
• Keywords (english): stroke; cerebrovascular disorders; gene polymorphisms; HPA; PSEL; FV G1691A; FII G20210A
• Language: croatian
• URN:NBN: urn:nbn:hr:163:391094
• Study programme: Title: Pharmacy and biochemistry; Study programme type: university; Study level: postgraduate; Academic / professional title: doktor znanosti (doktor znanosti)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2016-11-16 16:03:03