Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00216208:11320/20:10414620 RIV/00023728:_____/20:N0000029
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30226 - Rheumatology
Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Clinical Medicine
ISSN
2077-0383
e-ISSN
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Volume of the periodical
9
Issue of the periodical within the volume
8
Country of publishing house
CH - SWITZERLAND
Number of pages
17
Pages from-to
2510
UT code for WoS article
000564675200001
EID of the result in the Scopus database
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