Predhipertenzija i polimorfizam gena za uromodulin

master's thesis

• Title (english): Prehypertension and umod gene polymorphism
• Author: Krešimir Đapić
• Mentor: Bojan Jelaković (mentor)
• Committee member: Živka Dika (predsjednik povjerenstva)
• Committee member: Marko Jakopović (član povjerenstva)
• Committee member: Bojan Jelaković (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2017-07-14, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Polimorfizam jednog nukleotida rs13333226 gena UMOD koji kodira protein uromodulin povezan je s arterijskim tlakom. Naš cilj bio je analizirati povezanost ovog polimorfizma s predhipertenzijom u općoj populaciji. U istraživanje je uključeno 496 odraslih osoba. Isključujući kriteriji bili su liječena arterijska hipertenzija ili šećerna bolest, preboljeli moždani udar ili infarkt miokarda, srčano zatajenje, kronična bubrežna bolest i ostalo. Osobe s eGFR manjom od 60 mL/min/1,73 m2 i ispitanici oboljeli od endemske nefropatije isključeni su iz istraživanja. Klinički i laboratoroijski podaci dobiveni su rutinskim postupcima i metodama, a polimorfizam gena određen je TaqMan® PCR metodom u stvarnom vremenu. Učestalost genotipova i minor alela G u ukupnoj populaciji bile su A/A 68,5% (N=340), A/G 29,6% (N=147), G/G 1,8% (N=9), minor alel G 16% (N=165). Logističkom regresijskom analizom utvrdili smo da niti jedan od promatranih genotipova nije prediktor predhipertenzije. Uobičajeni čimbenici rizika kao što su spol, dob i indeks tjelesne mase utječu na vrijednosti sistoličkog arterijskog tlaka i procijenjene glomerularne filtracije jednako u svim genotipovima uromodulina. Potrebno je povećati uzorak ispitanika kako bi se lakše uočile manje fenotipske promjene, i nastaviti pratiti klinički tijek skupine predhipertoničara kako bi se dobio podatak o dinamici tijekom duljeg vremena praćenja.

Abstract (english)

Single nucleotide polymorphism rs13333226 of UMOD gene which encodes protein uromodulin is associated with blood pressure. Our goal was to analyze the relationship of this polymorphism with prehypertension in general population.
In this study we have enrolled 496 adults. Excluding criteria were treated hypertension or diabetes mellitus type 2, previous stroke or myocardial infarction, heart failure, chronic kidney disease and other. Individuals with eGFR lower than 60 mL/min/1,73 m2 and those suffering from endemic nephropathy were excluded. Clinical and laboratory data were obtained by routine methods and polymorphism was obtained with TaqMan® real time PCR method. Prevalence of genotypes and G minor allele in overall population were A/A 68,5% (N=340), A/G 29,6% (N=147), G/G 1,8% (N=9) and G minor allele 16% (N=165). With logistic regression we have found that none of the observed genotypes are predictors for prehypertension. Common risk factors such as gender, age and body mass index equally affect systolic blood pressure and the estimated glomerular filtration in all genotypes equally. It is necessary to increase the sample of subjects in order to detect small changes in phenotype, and continue to follow the clinical course of the in order to measure the dynamics over an extended time.

• Keywords: polimorfizam jednog nukleotida; uromodulin; predhipertenzija; molekularna epidemiologija
• Keywords (english): single nucleotide polymorphism; uromodulin; prehypertension; molecular epidemiology
• Language: croatian
• URN:NBN: urn:nbn:hr:105:028229
• 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: 2017-11-16 08:17:29