Title Okolišne i genetičke odrednice pojavnosti i međuovisnosti povišene serumske koncentracije mokraćne kiseline i gihta
Title (english) Environmental and genetic determinants of occurrence and interdependence of elevated serum uric acid concentration and gout
Author Iris Jerončić
Mentor Ozren Polašek (mentor)
Committee member Dušanka Martinović Kaliterna (predsjednik povjerenstva)
Committee member Željko Dujić (član povjerenstva)
Committee member Stjepan Gamulin (član povjerenstva)
Granter University of Split School of Medicine Split
Defense date and country 2014, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Public Health and Health Care Public Health
Universal decimal classification (UDC ) 614 - Public health and hygiene. Accident prevention
Abstract Cilj istraživanja bio je istražiti učestalost i međuovisnost povišene serumske koncentracije
mokraćne kiseline i gihta u populaciji Korčule, Visa i šireg područja Splita, te ustanoviti
razlike u genetskoj podlozi, obrascima ponašanja ili drugim obilježjima osoba koje imaju
povišenu koncentraciju mokraćne kiseline a nemaju giht. Istraživanjem je obuhvaćeno 3.006
ispitanika, u tri pod-uzorka. Usporedba tri pod-uzorka pokazala je razlike u svim varijablama,
od dobi i spola, socioekonomskog stanja, do pokazatelja vezanih uz metabolizam mokraćne
kiseline i giht. Analiza koncentracije mokraćne kiseline ukazala je na različit spolno-vezani
obrazac. Analiza učestalosti gihta prema pod-uzorku i spolu bila je drugačijeg obrasca;
najviše gihta među muškarcima je u dobi 50-59 godina u sva tri pod-uzorka, u žena je obrazac
različit u svakom pod-uzorku. Kod muškaraca je učestalost hiperuricemije bila između 15 i
25% i nije pokazivala velike promjene prema dobi, dok se kod žena giht pojavljivao u
kasnijim dobnim skupinama s najvećom učestalosti u starijim skupinama i trendom
smanjivanja u najstarijim dobnim skupinama. Najviše gihta među ženama zabilježeno je u
Visu, s čak do 7% učestalosti u dobnoj skupini 60-69 godina, dok je u preostala dva poduzorka
učestalost bila izraženo niža, a u Splitu čak i toliko niska da u nekim dobnim
skupinama nije zabilježen niti jedan slučaj. Dva polimorfizama jednog nukleotida (SNP) koji
pripadaju SLC17A3 genu (rs9393672 i rs942379) imaju značajnu povezanost s promjenom
koncentracije serumske mokraćnom kiseline u žena. Analiza genetskih biljega u poduzorcima
ukazala je na postojanje razlike u učestalosti pojedinih genotipova, posebice za gen
SLC2A9. Rezultati su potvrdili povezanost nekoliko biljega s hiperuricemijom, posebno
biljega iz gena SLC2A9 i GCKR. U istraživanju interakcije između gena i prehrambenih
navika u regulaciji serumske mokraćne kiseline evidentirano je smanjenje koncentracije s
povećanjem konzumacije mlijeka, kiselog vrhnja, pačjeg mesa, puretine i jaja. Značajna
povezanost pronađena je između konzumacije krumpira i rs737267, a skoro značajna interakcija između konzumacije bezalkoholnih pića i rs1014290. Povećana konzumacija
bezalkoholnih pića u interakciji s genotipom TT na rs1014290 povećala je serumsku
koncentraciju. Analiza s gihtom kao prediktorskom varijablom ukazala je nepostojanje
značajnih rezultata niti za jedan od analiziranih biljega. Hiperuricemija je najsnažniji
prediktor pojave incidentnog gihta. Snaga ove povezanosti dosta je velika, no dizajn
istraživanja nije postavio uzročno-posljedičnu povezanost. Iako mala, razlika objašnjene
varijance u zajedničkim modelima ukazala je na značenje genetskih biljega u predikciji gihta.
Abstract (english) The aim of this study was to investigate the prevalence and interplay between elevated serum
uric acid concentration and gout, in the population of the islands of Korcula and Vis, and Split
region, and establish differences in the genetic background, behavioural patterns or other
characteristics of these two phenomena. The study encompassed a total of 3,006 subjects in
all three sub-samples. The comparison suggested that the sub-samples were largely different,
in terms of age and gender, socioeconomic status as well as the gout and uric acid variables,
marked with strong gender differences. We determined that gout mostly affected up to 7% of
women in the 60 – 69 age group in Vis whereas the frequency was lower in the two other subpopulations.
In Split, however, the gout was the most common in men in the 50-59 age group,
while for women it was different in all three subsamples. Two single-nucleotide
polymorphisms (SNP) belonging to SLC17A3 gene (rs9393672 and rs942379) yielded
significant association with serum uric acid concentration changes in women. In study of the
interaction between genetic variants of the gene for glucose transporter (SLC2A9) and dietary
habits in the regulation of serum uric acid we registered a significant decrease in uric acid
levels was recorded with increasing consumption of milk, sour cream, duck and turkey, and
eggs. The only significant interaction was found between potato consumption and rs737267
and a near-significant interaction was found between soft drinks and rs1014290. Increased
consumption of soft drinks interacting with the TT genotype at rs1014290 increased serum
uric acid. Hyperuricaemia had prevalence in men between 15 and 25%, while in women it
tended to became more frequent towards the elderly groups. Genetics had shown that
SLC2A9 and GCKR genes were associated with uric acid concentration, without significant
results for gout. Hyperuricaemia remains the single strongest risk factor for gout. Genetic
markers explained a low proportion of variance, but seemed to have at least marginal role in
gout development.
Keywords
Giht
Hiperuricemija
Keywords (english)
Gouty Arthritis
Hyperuricemia
Language croatian
URN:NBN urn:nbn:hr:171:444141
Study programme Title: Basic and clinical medical sciences Study programme type: university Study level: postgraduate Academic / professional title: doktor/doktorica znanosti, područje biomedicine i zdravstva, polje kliničke medicinske znanosti (doktor/doktorica znanosti, područje biomedicine i zdravstva, polje kliničke medicinske znanosti)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Created on 2023-06-02 08:12:12