Prevalence of URAT1 allelic variants in the Roma population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F16%3A10330326" target="_blank" >RIV/00216208:11110/16:10330326 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1080/15257770.2016.1168839" target="_blank" >http://dx.doi.org/10.1080/15257770.2016.1168839</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1080/15257770.2016.1168839" target="_blank" >10.1080/15257770.2016.1168839</a>
Alternative languages
Result language
angličtina
Original language name
Prevalence of URAT1 allelic variants in the Roma population
Original language description
The Roma represents a transnational ethnic group, with a current European population of 8-10 million. The evolutionary process that had the greatest impact on the gene pool of the Roma population is called the founder effect. Renal hypouricemia (RHUC) is a rare heterogenous inherited disorder characterized by impaired renal urate reabsorption. The affected individuals are predisposed to recurrent episodes of exercise-induced nonmyoglobinuric acute kidney injury and nephrolithiasis. To date, more than 150 patients with a loss-of-function mutation for the SLC22A12 (URAT1) gene have been found, most of whom are Asians. However, RHUC 1 patients have been described in a variety of ethnic groups (e.g., Arab Israelis, Iraqi Jews, Caucasians, and Roma) and in geographically noncontiguous countries. This study confirms our previous findings regarding the high frequency of SLC22A12 variants observed. Frequencies of the c.1245_1253del and c.1400C>T variants were found to be 1.92% and 5.56%, respectively, in a subgroup of the Roma population from five regions in three countries: Slovakia, Czech Republic, and Spain. Our findings suggested that the common dysfunction allelic variants of URAT1 exist in the general Roma population and thus renal hypouricemia should be kept in differential diagnostic algorithm on Roma patients with defect in renal tubular urate transport. This leads to confirm that the genetic drift in the Roma have increased the prevalence of hereditary disorders caused by very rare variants in major population.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FP - Other medical fields
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NV15-26693A" target="_blank" >NV15-26693A: Function study of allelic variants of urate transporters in primary hyperuricemia and gout</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nucleosides, Nucleotides and Nucleic Acids
ISSN
1525-7770
e-ISSN
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Volume of the periodical
35
Issue of the periodical within the volume
10-12
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
529-535
UT code for WoS article
000389143100006
EID of the result in the Scopus database
2-s2.0-85000814847