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Background  ABCG2 is a high-capacity urate transporter that plays a crucial role in renal urate overload and extra-renal urate underexcretion. Previous studies have suggested an association between hyperuricemia and gout susceptibility relative to dysfunctional ABCG2 variants, with rs2231142 (Q141K) being the most common. In this study, we analyzed the  ABCG2  gene in a hyperuricemia and gout cohort focusing on patients with pediatric-onset, i.e., before 18 years of age.    Method  The cohort was recruited from the Czech Republic ( n  = 234) and consisted of 58 primary hyperuricemia and 176 gout patients, with a focus on pediatric-onset patients ( n  = 31, 17 hyperuricemia/14 gouts); 115 normouricemic controls were used for comparison. We amplified, sequenced, and analyzed 15  ABCG2  exons. The chi-square goodness-of-fit test was used to compare minor allele frequencies (MAF), and the log-rank test was used to compare empirical distribution functions.    Results  In the pediatric-onset cohort, two common (p.V12M, p.Q141K) and three very rare (p.K360del, p.T421A, p.T434M) allelic ABCG2 variants were detected. The MAF of p.Q141K was 38.7% compared to adult-onset MAF 21.2% (OR = 2.4,  P  = 0.005), to the normouricemic controls cohort MAF 8.5% (OR = 6.8,  P  <  0.0001), and to the European population MAF 9.4% (OR = 5.7,  P  <  0.0001). The MAF was greatly elevated not only among pediatric-onset gout patients (42.9%) but also among patients with hyperuricemia (35.3%). Most (74%) of the pediatric-onset patients had affected family members (61% were first-degree relatives).    Conclusion  Our results show that genetic factors affecting ABCG2 function should be routinely considered in a hyperuricemia/gout diagnosis, especially in pediatric-onset patients. Genotyping of  ABCG2  is essential for risk estimation of gout/hyperuricemia in patients with very early-onset and/or a family history.

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients