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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FP - Ostatní lékařské obory

OECD FORD obor

—

Projekt

<a href="/cs/project/NV15-26693A" target="_blank" >NV15-26693A: Funkční studie alelických variant urátových transportérů v primární hyperurikémii a dně</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2016

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Rheumatology

ISSN

1462-0324

e-ISSN

—

Svazek periodika

55

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

4

Strana od-do

191-194

Kód UT WoS článku

000369074800030

EID výsledku v databázi Scopus

2-s2.0-84979854809