Povezanost polimorfizma gena za angiotenzin II receptor tip 1 s pojavnosti moždanog udara u ranijoj odrasloj dobi

master's thesis

• Title (english): Linkage polymorphism of angiotensin II receptor type 1 with the incidence of stroke in early adulthood
• Author: Tena Lovrić
• Mentor: Zdravka Poljaković (mentor)
• Committee member: Fran Borovečki (predsjednik povjerenstva)
• Committee member: Mario Habek (član povjerenstva)
• Committee member: Zdravka Poljaković (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Neurology); Zagreb
• Defense date and country: 2014-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Neurology

Abstract

Moždani udar (MU) je prvi uzrok invaliditeta u Hrvatskoj. Prema mehanizmu nastanka može
se podijeliti na ishemijski i hemoragijski. MU možemo smatrati poligenskim
aterotrombotskim poremećajem. Pri tome sustav renin-angiotenzin (RAS) ima važnu ulogu.
Angiotenzin II, dio RAS-a koji je snažan vazokonstriktor, svoje djelovanje vrši preko
receptora AT1 i AT2. Gen koji kodira AT1 receptor (AT1R) ima više polimorfnih oblika.
Fiziološko značenje polimorfizma AT1R A1166C nije sasvim jasno.
Hipoteza ovog rada je da varijante gena AT1R mogu biti rizični čimbenik za MU u ranijoj
odrasloj dobi. Stoga je ispitivana povezanost polimorfizma AT1R A1166C s pojavnosti
ishemijskog moždanog udara (IMU) u ispitanika u dobi do 55. godine života. Ispitivanjem je
obuhvaćena 301 osoba od kojih je 114 s akutnim IMU. Genotip AT1R A1166C, određen iz
venske krvi, analiziran je metodom PCR/RFLP, a lokalizacija ishemije CT snimkama mozga.
Statističkom analizom potvrđena je povezanost IMU s varijantama gena AT1R A1166C
(p=0,004). Također je ustanovljena statistički značajna povezanost genotipova AT1R A1166C
s lokalizacijom IMU. Rezultati ovog rada pokazuju značajnu povezanost genetičkih
čimbenika s pojavnošću IMU i njegovim smještajem te upućuju na potrebu dodatnih
ispitivanja.

Abstract (english)

Stroke is the most common cause of severe long-term disability in Croatia. Two main types of
stroke include ischemic stroke (IS) and hemorrhagic stroke. Stroke can also be considered as
atherothrombotic polygenic disorder where the renin-angiotensin system (RAS) plays an
important role. The angiotensin II, a part of the RAS, acts through AT1 and AT2 receptors.
The gene encoding for the AT1 receptor (AT1R) has several polymorphic forms. The
physiological significance of AT1R A1166C polymorphism is not entirely clear.
The hypothesis of this study was that the variant at the AT1R gene may be a risk factor for the
incidence of stroke in early adulthood. The connection of AT1R A1166C polymorphism with
the incidence of IS in patients under the age of 55 was examined. 301 persons were included
in the study, among them 114 with acute IS. The AT1R A1166C genotype, determined from
venous blood, was analyzed by PCR/RFLP, while localization of stroke was determined from
brain CT scans. Statistical analysis confirmed the connection of IS with the variants of gene
AT1R A1166C (p=0.004). Also significant connection of genotypes AT1R A1166C with the
localization of stroke was found. The results of this study support the assumption of influence
of genetic factors on stroke incidence and localization.

• Keywords: ishemijski moždani udar; RAS; AT1R
• Keywords (english): ischemic stroke; RAS; AT1R
• Language: croatian
• URN:NBN: urn:nbn:hr:105:027597
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2015-09-28 09:14:52