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Background  Tophi contribute to musculoskeletal disability, joint damage and poor health-related quality of life in people with gout. The aim of this study was to examine the role of  SLC2A9  and  ABCG2  variants in tophaceous disease in people with gout.    Methods  Participants (n = 1778) with gout fulfilling the 1977 American Rheumatism Association (ARA) classification criteria, who were recruited from primary and secondary care, attended a detailed study visit. The presence of palpable tophi was recorded.  SLC2A9 rs11942223, ABCG2 rs2231142  and  ABCG2 rs10011796  were genotyped. Data were analysed according to tophus status.    Results  Compared to participants without tophi, those with tophi were older, had longer disease duration and higher serum creatinine, and were more likely to be of Māori or Pacific (Polynesian) ancestry.  SLC2A9 rs11942223  was not associated with tophi. However, the risk alleles for both  ABCG2  single nucleotide polymorphisms (SNPs) were present more frequently in those with tophi (OR (95% CI) 1.24 (1.02–1.51) for  rs2231142  and 1.33 (1.01–1.74) for  rs10011796 ,  p  < 0.05 for both). The effect of  rs2231142  was limited to participants of Māori or Pacific ancestry (OR 1.50 (1.14–1.99),  p  = 0.004), with a significant effect observed in those of Western Polynesian ancestry only (OR 1.71 (1.07–2.72),  p  = 0.017). The  rs10011796  risk allele was strongly associated with tophi in the Western Polynesian group (OR 3.76 (1.61–8.77),  p  = 0.002), but not in the Eastern Polynesian group (OR 0.87 (0.52–1.46),  p  = 0.60) nor in the non-Polynesian group (OR 1.16 (0.81–1.66),  p  = 0.32). The  ABCG2  associations persisted in the Western Polynesian group after adjusting for serum urate, creatinine, and disease duration, and when including both  ABCG2  variants in the regression models.    Conclusions  Variation in ABCG2 function may play a role in the development of tophaceous disease in some populations with high prevalence of severe gout.    Electronic supplementary material  The online version of this article (doi:10.1186/s13075-017-1254-8) contains supplementary material, which is available to authorized users.

Population-specific association between ABCG2 variants and tophaceous disease in people with gout