Title ULOGA POLIMORFIZAMA GENA ZA
PROTEINSKI NOSAČ I RECEPTOR ZA
VITAMIN D U INFARKTU MIOKARDA
Title (english) THE ROLE OF VITAMIN D BINDING PROTEIN
AND VITAMIN D RECEPTOR GENE
POLYMORPHISM IN MYOCARDIAL
INFARCTION
Author Damir Raljević
Mentor Viktor Peršić (mentor)
Mentor Sandra Kraljević Pavelić (komentor)
Committee member Nada Starčević Čizmarević (predsjednik povjerenstva)
Committee member Roberta Petlevski (član povjerenstva)
Committee member Teodora Zaninović Jurjević (član povjerenstva)
Granter University of Rijeka Faculty of Medicine (Department of Internal Medicine) Rijeka
Defense date and country 2021, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Clinical Medical Sciences Internal Medicine
Universal decimal classification (UDC ) 61 - Medical sciences
Abstract Cilj istraživanja: Kardiovaskularne bolesti su vodeći uzrok smrti u svijetu. Koronarna je bolest
uzrok gotovo 50 % smrti od kardiovaskularnih bolesti. Rastući je broj znanstvenih dokaza da je
deficit vitamina D čimbenik rizika u koronarnoj bolesti. S obzirom na to da je proteinski nosač za
vitamin D (VDBP) glavni nosač svih oblika vitamina D te da receptor za vitamin D (VDR)
predstavlja glavni put kojim vitamin D ostvaruje svoju funkciju, polimorfizmi gena za VDBP i VDR
potencijalno mogu utjecati na funkcionalnost VDBP-a i VDR-a te remetiti akivnost vitamina D.
Međutim, podaci u literaturi o utjecaju VDBP i VDR polimorfizama na koronarnu bolest su
proturječni. Cilj nam je prezentirati nove dokaze utjecaja dvaju VDBP polimorfizama (rs4588,
rs7041) te triju VDR polimorfizama (rs2228570, rs1544410, rs731236) na koronarnu bolest u
pacijenata nakon akutnog infarkta miokarda te pronaći moguću povezanost ovih polimorfizama sa
serumskom razinom 25-hidroksi vitamina (OH) D.
Ispitanici i metode: Ovo opažajno presječno istraživanje uključilo je 155 ispitanika s koronarnom
bolesti nakon akutnog infarkta miokarda te 104 ispitanika kontrolne skupine bez koronarne bolesti.
Ispitanici obiju grupa su bijelci europskog porijekla. Frekvencije alela VDBP polimorfizama
(rs4588, rs7041) i VDR polimorfizama (rs2228570, rs1544410, rs731236) istraživane su putem
RT-PCR-a. Serumska razina vitamina D izmjerena je metodom tekuće kromatografije udružene s
mass spektrometrijom (LC-MS/MS).
Rezultati: Pronađena je povezanost VDBP (rs4588) T/T genotipa s anteroseptalnim infarktom
miokarda. Također, pronađena je povezanost VDR (rs1544410) T/T genotipa te VDR (rs731236)
G/G genotipa s pacijentima s koronarnom bolesti nakon infarkta miokarda. Nije utvrđena
povezanost VDR (rs2228570) polimorfizma kao ni VDBP (rs7041) polimorfizma s pacijentima
nakon infarkta miokarda.
Zaključak: Dobiveni rezultati govore u prilog povezanosti VDBP (rs4588) T/T genotipa s
anteroseptalnim infarktom miokarda te VDR (rs1544410) T/T genotipa i VDR (rs731236) G/G
genotipa s rizikom za infarkt miokarda kod pacijenata s koronarnom bolesti.
Abstract (english) Objectives: Cardiovascular diseases (CVD) are the leading cause od death worldwide. Coronary
artery diseases (CAD) causes almost half of death of CVD. There is a growing amount of evidence
that links vitamin D deficiency with CAD. Vitamin D binding protein (VDBP) is the main Vitamin D
carrier. Vitamin D manifests its biological function through his vitamin D receptor (VDR). VDBP
and VDR gene polymorphism potentially affects VDBP and VDR functionality and with that affect
the vitamin D activity. However, data in the literature on the influence of VDBP and VDR
polymorphisms on CAD are contradictory. The objective of this study is to present new evidence
of the role of two VDBP gene pholymorphisms (rs4588, rs7041), three VDR gene polymorphisms
(rs2228570, rs1544410, rs731236) on CAD in patients after acute myocardial infarction and find
the eventual assotiation between these polymorphisms with the 25 hidroxyvittamin D serum level.
Patients and Methods: In this cross sectional study there was included 155 participants with CAD
after acute myocardial infarction and 104 participants in the control group without CAD.
Participants in both groups were Caucasian of European origin. The allele frequency of VDBP
polymorphysms (rs4588, rs7041) and VDR polymorphisms (rs2228570, rs1544410, rs731236) are
assessed by RT-PCR. The vitamin D serum level is measured with liquid chromatography tandem
mess spectrometry metode (LC-MS/MS)
Results: the results show an assocition between VDBP (rs4588) T/T genotype and anteroseptal
myocardial infarction. Also, the results show an association between VDR (rs1544410) T/T
genotype and VDR (rs731236) G/G genotype and CAD in patients after acute myocardial
infarction. There was no association between VDBP (rs7041) and VDR (rs2228570)
polymorphism and CAD
Conclusion: These results suggest that VDBP (rs4588) T/T genotype is an susceptibility factor
for anterospetal myocardial factor. Alsto, that (rs1544410) T/T genotype and VDR (rs731236) G/G
genotype is an susceptibility factor for CAD in patients after acute myocardial infarction.
Keywords
Infarkt miokarda
polimorfizam
genetski
receptor
vitamin D
vitamin D
vitamin D – proteinski nosač
Keywords (english)
Myocardial Infarction
Polymorphism
Genetic
Receptor
Vitamin D
Vitamin D
Vitamin D-Binding Protein
Language croatian
URN:NBN urn:nbn:hr:184:508427
Promotion 2022
Study programme Title: Biomedicine Postgraduate (doctoral) study programme Study programme type: university Study level: postgraduate Academic / professional title: doktor/doktorica znanosti, područje biomedicine i zdravstvo (doktor/doktorica znanosti, područje biomedicine i zdravstvo)
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Created on 2022-08-04 08:10:20