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Prevalence of URAT 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%2F00023728%3A_____%2F16%3AN0000066" target="_blank" >RIV/00023728:_____/16:N0000066 - isvavai.cz</a>

  • Result on the web

    <a href="https://doi.org/10.1080/15257770.2016.1168839" target="_blank" >https://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 URAT allelic variants in the Roma population

  • Original language description

    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

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30226 - Rheumatology

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)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

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 & NUCLEIC ACIDS

  • ISSN

    1525-7770

  • e-ISSN

  • 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