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Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10324947" target="_blank" >RIV/00064165:_____/16:10324947 - isvavai.cz</a>

  • Alternative codes found

    RIV/00023728:_____/16:N0000059 RIV/00216208:11110/16:10324947

  • Result on the web

    <a href="http://rheumatology.oxfordjournals.org/content/55/1/191.full.pdf" target="_blank" >http://rheumatology.oxfordjournals.org/content/55/1/191.full.pdf</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1093/rheumatology/kev350" target="_blank" >10.1093/rheumatology/kev350</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis

  • Original language description

    Gout is caused by hyperuricaemia. Several genes involved in renal urate transport, such as SLC2A9, ABCG2 and SLC22A12, have been identified as risk factors for hyperuricaemia and gout. More recently, a genome-wide association study of gout uncovered that single-nucleotide polymorphisms (SNPs) of SLC2A9 and ABCG2 are associated with two types of gout, renal underexcretion and renal overload, respectively. The genome-wide association study, however, has limitations in establishing causality of disease-associated SNPs. Therefore, experimental validations are essential to determine if interesting variants are indeed responsible for clinical symptoms. As reported in our previous study of common SLC2A9 allelic variants, we detected variants with no evidence of an association with hyperuricaemia and gout. In this letter we present a biochemical, molecular genetic and functional case study suggesting a causal link between a hitherto undescribed sequence variant in the ABCG2 gene and a severe gouty phenotype.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FP - Other medical fields

  • OECD FORD branch

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

    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

    Rheumatology

  • ISSN

    1462-0324

  • e-ISSN

  • Volume of the periodical

    55

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    GB - UNITED KINGDOM

  • Number of pages

    4

  • Pages from-to

    191-194

  • UT code for WoS article

    000369074800030

  • EID of the result in the Scopus database

    2-s2.0-84979854809