Access restricted to higher education institution's students and staff
master's thesis
POLIMORFIZAM C1/C2 GENA ZA TRANSFERIN KAO RIZIČNI ČIMBENIK U ALKOHOLNOJ CIROZI JETRE

Martina Jurčić (2015)
Metadata
TitlePOLIMORFIZAM C1/C2 GENA ZA TRANSFERIN KAO RIZIČNI ČIMBENIK U ALKOHOLNOJ CIROZI JETRE
AuthorMartina Jurčić
Mentor(s)Nada Starčević-Čizmarević (thesis advisor)
Abstract
Alkohol je glavni uzrok ciroze jetre u Europi, gdje je 1,8% smrtniih slučajeva uzrokovano bolestima jetre. Iako je alkohol najvažniji faktor u razvoju alkoholne ciroze jetre, samo 10-20% alkoholičara razviju ovu bolest. Istraživanja su pokazala da pušenje, pretilost i kronični virusni hepatitis C povećavaju rizik. No osim okolišnih faktora, vjerovatno značajnu ulogu u etiopatogenezi alkoholne ciroze ima i genetska predispozicija. Jedan od potencijalnih gena kandidata u razvoju alkoholne ciroze je gen za transferin. Naime, transferin je glikoprotein na koji se veže željezo te pomoću njega cirkulira plazmom i ulazi u stanice. Nadalje, kod bolesnika s alkoholnom bolesti jetre povišene su razine željeza u serumu i koncentraciji željeza u jetri što se povezuju se s većom stopom smrtnosti ovih bolesnika i ukazuje na ulogu željeza u patogenezi alkoholne bolesti jetre. S toga je cilj ovog rada bio ispitati polimorfizam C1/C2 gena za tranferin (TF) kao rizični faktor za razvoj alkoholne ciroze jetre. Istraživanje je obuhvatilo 118 bolesnika s alkoholnom cirozom jetre (95 muškaraca i 23 žena) i 236 ispitanika (190 muškaraca i 46 žena) u kontrolnoj skupini. Molekularno-genetička analiza TF C1/C2 polimorfizma provedena je metodom lančane reakcija polimeraze (PCR) nakon koje je slijedila restrikcija s odgovarajućim endonukleazama. Rezultati su pokazali da nema statistički značajne razlike (p>0,05) u učestalosti TF C1/C2 alela i genotipova između bolesnika i kontrolne skupine kao ni među bolesnicima s obzirom na spol. Također, nije bilo značajne korelacije (p>0,05) između TF C1/C2 alela i promatranih biokemijskih parametara (γ–GT, AST, alkalna fosfataza, albumini). Na osnovi dobivenih rezultata možemo zaključiti da polimorfizam C1/C2 TF gena nije rizični čimbenik u razvoju alkoholne ciroze jetre. Ključne riječi: alkohol, ciroza jetre, genski polimorfizam, transferin
Keywordsalcohol liver cirrhosis gene polymorphism transferrin
GranterSveučilište u Rijeci
Medicinski fakultet
Lower level organizational unitsKatedra za biologiju i medicinsku genetiku
PlaceRijeka
StateCroatia
Scientific field, discipline, subdisciplineBIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Scientific field, discipline, subdisciplineBIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Study programme typeuniversity
Study levelgraduate
Study programmeStudy of Sanitary Engineering
Academic title abbreviationmag. sanit. ing.
Genremaster's thesis
Language Croatian
Defense date2015
Parallel abstract (English)
Alcohol is the main cause of liver cirrhosis in Europe, where 1.8% of all deaths are due to liver disease. Even though alcohol is the most important risk factor, only 10-20% of chronic alcoholics develop alcohol liver disease. Studies have shown that smoking, obesity and chronic viral hepatitis C increases the risk. However, besides environmental factors, an important role in pathogenesis of alcoholic liver disease may also play genetic predisposing factors. One potential gene candidate in developing alcoholic liver disease is transferring gene. Transferrin is a glycoprotein that iron binds to and in that way circulates through plasma and entering in to the cells. Furthermore, patients with alcoholic liver disease frequently show elevated serum iron and hepatic iron concentration which is associated with greater mortality from alcoholic cirrhosis, suggesting a pathogenic role for iron in alcoholic liver disease. Therefore the aim of this study was to review polymorphism C1/C2 in transferrin gene as a risk factor in alcoholic liver cirrhosis. The study included 118 patients with alcoholic liver disease (95 male and 23 female) and 263 (190 male and 46 female) blood donors as controls. Molecular genetic analysis of TF C1/C2 polymorphism was conducted by the PCR (polymerase chain reaction) method which led to restriction with suitable endonucleases. Results have not shown statistically significant difference in frequency of TF C1/C2 alleles and genotypes between patients and controls, and neither between patients with different gender. Also, there was no significant correlation between TF C1/C2 alleles and biochemical parameters (γ–GT, AST, alkaline phosphatase, albumin). Based on the results we can conclude that polymorphism C1/C2 in transferrin gene is not a risk factor in alcoholic liver cirrhosis.
Parallel keywords (Croatian)alkohol ciroza jetre genski polimorfizam transferin
Resource typetext
Access conditionAccess restricted to higher education institution's students and staff
Terms of usehttp://rightsstatements.org/vocab/InC/1.0/
URN:NBNhttps://urn.nsk.hr/urn:nbn:hr:184:286262
CommitterBosa Licul