Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10414620" target="_blank" >RIV/00216208:11110/20:10414620 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00216208:11320/20:10414620 RIV/00023728:_____/20:N0000029
Výsledek na webu
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=IX2aMviP5x" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=IX2aMviP5x</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/jcm9082510" target="_blank" >10.3390/jcm9082510</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout
Popis výsledku v původním jazyce
Urate transporters, which are located in the kidneys, significantly affect the level of uric acid in the body. We looked at genetic variants of genes encoding the major reabsorption proteins GLUT9 (SLC2A9) and URAT1 (SLC22A12) and their association with hyperuricemia and gout. In a cohort of 250 individuals with primary hyperuricemia and gout, we used direct sequencing to examine theSLC22A12andSLC2A9genes. Identified variants were evaluated in relation to clinical data, biochemical parameters, metabolic syndrome criteria, and our previous analysis of the major secretory urate transporter ABCG2. We detected seven nonsynonymous variants ofSLC2A9. There were no nonsynonymous variants ofSLC22A12. Eleven variants ofSLC2A9and two variants ofSLC22A12were significantly more common in our cohort than in the European population (p= 0), while variants p.V282I and c.1002+78A>G had a low frequency in our cohort (p= 0). Since the association between variants and the level of uric acid was not demonstrated, the influence of variants on the development of hyperuricemia and gout should be evaluated with caution. However, consistent with the findings of other studies, our data suggest that p.V282I and c.1002+78A>G (SLC2A9) reduce the risk of gout, while p.N82N (SLC22A12) increases the risk.
Název v anglickém jazyce
Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout
Popis výsledku anglicky
Urate transporters, which are located in the kidneys, significantly affect the level of uric acid in the body. We looked at genetic variants of genes encoding the major reabsorption proteins GLUT9 (SLC2A9) and URAT1 (SLC22A12) and their association with hyperuricemia and gout. In a cohort of 250 individuals with primary hyperuricemia and gout, we used direct sequencing to examine theSLC22A12andSLC2A9genes. Identified variants were evaluated in relation to clinical data, biochemical parameters, metabolic syndrome criteria, and our previous analysis of the major secretory urate transporter ABCG2. We detected seven nonsynonymous variants ofSLC2A9. There were no nonsynonymous variants ofSLC22A12. Eleven variants ofSLC2A9and two variants ofSLC22A12were significantly more common in our cohort than in the European population (p= 0), while variants p.V282I and c.1002+78A>G had a low frequency in our cohort (p= 0). Since the association between variants and the level of uric acid was not demonstrated, the influence of variants on the development of hyperuricemia and gout should be evaluated with caution. However, consistent with the findings of other studies, our data suggest that p.V282I and c.1002+78A>G (SLC2A9) reduce the risk of gout, while p.N82N (SLC22A12) increases the risk.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
30226 - Rheumatology
Návaznosti výsledku
Projekt
—
Návaznosti
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Ostatní
Rok uplatnění
2020
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Journal of Clinical Medicine
ISSN
2077-0383
e-ISSN
—
Svazek periodika
9
Číslo periodika v rámci svazku
8
Stát vydavatele periodika
CH - Švýcarská konfederace
Počet stran výsledku
17
Strana od-do
2510
Kód UT WoS článku
000564675200001
EID výsledku v databázi Scopus
—