gms | German Medical Science

Deutscher Rheumatologiekongress 2023

51. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh)
37. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh)
33. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)

30.08. - 02.09.2023, Leipzig

Genetic variants in the ABCG2 as a significant risk factor for primary gout

Meeting Abstract

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  • Katerina Pavelcova - Institute of Rheumatology, Prag
  • Blanka Stiburkova - Institute of Rheumatology, Prag; First Faculty of Medicine, Charles University and General University Hospital, Department of Pediatrics and Inherited Metabolic Disorders, Prag; First Faculty of Medicine, Charles University, Prague, Department of Rheumatology, Prag
  • Jana Masinova - Institute of Rheumatology, Prag

Deutsche Gesellschaft für Rheumatologie. Deutsche Gesellschaft für Orthopädische Rheumatologie. Gesellschaft für Kinder- und Jugendrheumatologie. Deutscher Rheumatologiekongress 2023, 51. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 37. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 33. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR). Leipzig, 30.08.-02.09.2023. Düsseldorf: German Medical Science GMS Publishing House; 2023. DocET.17

doi: 10.3205/23dgrh037, urn:nbn:de:0183-23dgrh0371

Veröffentlicht: 30. August 2023

© 2023 Pavelcova et al.
Dieser Artikel ist ein Open-Access-Artikel und steht unter den Lizenzbedingungen der Creative Commons Attribution 4.0 License (Namensnennung). Lizenz-Angaben siehe



Background: It is estimated that genetic factors affect uric acid levels by about 40%. In terms of the development of gout, the most important urate transporter is ABCG2 (ATP-binding cassette sub-family G member 2), which is expressed in the proximal tubules of the kidneys and in the intestine.

Objectives: The aim of our study was to identify new genetic variants in ABCG2 and to determine the frequency of already known pathogenic variants in this gene in patients with primary hyperuricemia and gout.

Methods: We collected a cohort of 450 patients, of whom 278 had primary gout and 172 had primary hyperuricemia (subjects with secondary gout were excluded from the study). We designed specific primers for all coding regions (15 exons, transcript ID: ENST00000650821), exon-intron boundaries and two deep intronic variants (rs13120400 and rs7672194). Subsequently, we optimized the conditions of PCR amplification and Sanger sequencing and examined the patients’ DNA.

Results: In our cohort, we detected a nonsynonymous variant p.Q141K with an allelic frequency of 0.22 (minor allele frequency – MAF – in the European population: 0.094). This variant increases the risk of gout, while the common p.V12M variant appears to reduce the risk (MAF in patients: 0.026, MAF in European population: 0.061). We also identified two short deletions (p.K360del and p.F373del) and 14 rare missense variants: p.M71V, p.G74D, p.M131I, p.R147W, p.T153M, p.I242T, p.R236X, p.F373C, p.T421A, p.T434M, p.S476P, p.A528T, p.S572R, and p.D620N [1]. According to functional studies, eight of these variants lead to reduced transport function of ABCG2: p.M131I, p.R147W, p.T153M, p.R236X, p.F373C, p.T434M, p.S476P, and p.S572R [2].

Conclusion: Our data suggest that the common variant p.Q141K and most of the rare variants affect the transport function of the ABCG2 protein and are a significant risk factor for primary hyperuricemia and gout.


Stiburkova B, Pavelcova K, Zavada J, Petru L, Simek P, Cepek P, Pavlikova M, Matsuo H, Merriman TR, Pavelka K. Functional non-synonymous variants of ABCG2 and gout risk. Rheumatology (Oxford). 2017 Nov 1;56(11):1982-92. DOI: 10.1093/rheumatology/kex295 Externer Link
Toyoda Y, Mančíková A, Krylov V, Morimoto K, Pavelcová K, Bohatá J, Pavelka K, Pavlíková M, Suzuki H, Matsuo H, Takada T, Stiburkova B. Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort. Cells. 2019 Apr 18;8(4):363. DOI: 10.3390/cells8040363 Externer Link