FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2908674903> ?p ?o ?g. }

• W2908674903 abstract "Background Early-onset or juvenile gout (EOG) without hypoxanthine-guanine phosphoribosyltransferase enzyme deficiency (HPRT, OMIM 300323) and not related to familial juvenile hyperuricemic nephropathy (UMOD, OMIM 300323) is a rare gout phenotype characterised by a first flare in adolescence or in young adulthood. While numerous genome wide association studies (GWAS) have been done in classical and late-onset gout, very few studies have been performed in EOG patients. Moreover, until now most genetic studies only assess association between pre-defined single nucleotide polymorphisms (SNP) and gout. Objectives Our aim was to identify the genetic variants of clinically confirmed EOG by screening all exons of gout-associated genes with targeted Next-Generation Sequencing (NGS) approach. Methods Twenty-six urate crystal-proven gout patients with first flare occurring before the age of 30 years were included. Gout history, comorbidities and patient characteristics were recorded. All participants provided written informed consent to genetic analysis. After DNA extraction from total blood samples, the NGS libraries were prepared with surselect QXT (Agilent) and sequencing was performed with miseq (Illumina). The multigene panel included 80 genes described in GWAS and genes involved in rare diseases such as HPRT and UMOD. Results Twenty-six patients (24 men, 20 Caucasians, 5 Asians and 1 African) with crystal-proven gout had experienced their first flare at a mean age of 22.8 years [14–29] Gout duration was 11.5 years [1–46] and clinical tophi observed in 9 patients. Mean age was 37.5 [24–69] years and mean body mass index 27.6 kg/m2 [20.1–40.7]. Ten patients were overweight, 5 had obesity, 1 hypertension, 0 diabetes mellitus, 7 dyslipidemia and 10 chronic kidney disease stages 2–4. Mean serum urate level was 527 µmol/L [270–803]. Amongst 26 affected patients, 7 had a molecular anomaly (26.9%). Six patients harboured one rare or novel variant in ABCG2 (three Caucasian patients), ALDH16A1 (two Caucasian patients) and SLC22A11 (one African patient). Two other patients (one Caucasian and one Asian) carried an association of variants in both ABCG2 and ALDH16A1. All variants had a Minor Allele Frequency (MAF) below 0.3% or were never described in public databases. All variant were considered as probably pathogenic according to in silico predictive algorithms. Interestingly, the well-known p.Gln141Lys SNP of ABCG2 was identified in 3 Asian patients (11.5%) at homozygous level. Conclusions Our finding of very rare and novel pathogenic variants in ABCG2, ALD16H1 and SLC22A11 genes provides better insights of the molecular pathogenesis in early-onset juvenile gout. However, our results also highlight the involvement of yet undetermined genes in this population. Disclosure of Interest None declared" @default.
• W2908674903 created "2019-01-25" @default.
• W2908674903 creator A5000690291 @default.
• W2908674903 creator A5002566502 @default.
• W2908674903 creator A5003216259 @default.
• W2908674903 creator A5007352526 @default.
• W2908674903 creator A5008108487 @default.
• W2908674903 creator A5029567719 @default.
• W2908674903 creator A5036593636 @default.
• W2908674903 creator A5060186682 @default.
• W2908674903 creator A5084376077 @default.
• W2908674903 creator A5090069988 @default.
• W2908674903 date "2018-06-01" @default.
• W2908674903 modified "2023-10-18" @default.
• W2908674903 title "OP0189 Identification of new and rare variants in abcg2, slc22a1 and aldh16a1 genes in crystal-proven early-onset gout" @default.
• W2908674903 doi "https://doi.org/10.1136/annrheumdis-2018-eular.4981" @default.
• W2908674903 hasPublicationYear "2018" @default.
• W2908674903 type Work @default.
• W2908674903 sameAs 2908674903 @default.
• W2908674903 citedByCount "0" @default.
• W2908674903 crossrefType "proceedings-article" @default.
• W2908674903 hasAuthorship W2908674903A5000690291 @default.
• W2908674903 hasAuthorship W2908674903A5002566502 @default.
• W2908674903 hasAuthorship W2908674903A5003216259 @default.
• W2908674903 hasAuthorship W2908674903A5007352526 @default.
• W2908674903 hasAuthorship W2908674903A5008108487 @default.
• W2908674903 hasAuthorship W2908674903A5029567719 @default.
• W2908674903 hasAuthorship W2908674903A5036593636 @default.
• W2908674903 hasAuthorship W2908674903A5060186682 @default.
• W2908674903 hasAuthorship W2908674903A5084376077 @default.
• W2908674903 hasAuthorship W2908674903A5090069988 @default.
• W2908674903 hasBestOaLocation W29086749031 @default.
• W2908674903 hasConcept C104317684 @default.
• W2908674903 hasConcept C106208931 @default.
• W2908674903 hasConcept C126322002 @default.
• W2908674903 hasConcept C135763542 @default.
• W2908674903 hasConcept C153209595 @default.
• W2908674903 hasConcept C2780402116 @default.
• W2908674903 hasConcept C54355233 @default.
• W2908674903 hasConcept C60644358 @default.
• W2908674903 hasConcept C71924100 @default.
• W2908674903 hasConcept C86803240 @default.
• W2908674903 hasConceptScore W2908674903C104317684 @default.
• W2908674903 hasConceptScore W2908674903C106208931 @default.
• W2908674903 hasConceptScore W2908674903C126322002 @default.
• W2908674903 hasConceptScore W2908674903C135763542 @default.
• W2908674903 hasConceptScore W2908674903C153209595 @default.
• W2908674903 hasConceptScore W2908674903C2780402116 @default.
• W2908674903 hasConceptScore W2908674903C54355233 @default.
• W2908674903 hasConceptScore W2908674903C60644358 @default.
• W2908674903 hasConceptScore W2908674903C71924100 @default.
• W2908674903 hasConceptScore W2908674903C86803240 @default.
• W2908674903 hasLocation W29086749031 @default.
• W2908674903 hasOpenAccess W2908674903 @default.
• W2908674903 hasPrimaryLocation W29086749031 @default.
• W2908674903 hasRelatedWork W1875371807 @default.
• W2908674903 hasRelatedWork W2171649986 @default.
• W2908674903 hasRelatedWork W2238016187 @default.
• W2908674903 hasRelatedWork W2329011957 @default.
• W2908674903 hasRelatedWork W2345130582 @default.
• W2908674903 hasRelatedWork W2553836649 @default.
• W2908674903 hasRelatedWork W2560046515 @default.
• W2908674903 hasRelatedWork W2735852021 @default.
• W2908674903 hasRelatedWork W2742801413 @default.
• W2908674903 hasRelatedWork W2792064918 @default.
• W2908674903 hasRelatedWork W2795856718 @default.
• W2908674903 hasRelatedWork W2915993399 @default.
• W2908674903 hasRelatedWork W2938365863 @default.
• W2908674903 hasRelatedWork W2941542476 @default.
• W2908674903 hasRelatedWork W2965079049 @default.
• W2908674903 hasRelatedWork W3021889363 @default.
• W2908674903 hasRelatedWork W3105476453 @default.
• W2908674903 hasRelatedWork W3136211444 @default.
• W2908674903 hasRelatedWork W3160356403 @default.
• W2908674903 hasRelatedWork W3213713391 @default.
• W2908674903 isParatext "false" @default.
• W2908674903 isRetracted "false" @default.
• W2908674903 magId "2908674903" @default.
• W2908674903 workType "article" @default.