Genetic variant may influence allopurinol response
medwireNews: Study results published in Rheumatology confirm the association between a mutation in the ABCG2 gene and poor response to allopurinol treatment among patients with gout.
The ABCG2 rs2231142 single nucleotide polymorphism (SNP) was previously shown to be associated with high serum urate levels despite allopurinol treatment in a genome-wide association study, say Lisa Stamp (University of Otago, Christchurch, New Zealand) and study co-authors.
Using data from 299 participants of the Long-term Allopurinol Safety Study Evaluating Outcomes in Gout Patients (LASSO), the team found that those with the SNP were 2.23 times as likely to have a poor response to allopurinol – defined as serum urate concentrations of at least 6 mg/dL despite an allopurinol dose of more than 300 mg/day – than those without after adjustment for factors including age, sex, and ethnicity.
And a meta-analysis combining these results with findings from the Genetics of Gout in Aotearoa New Zealand study found that the ABCG2 rs2231142 mutation was associated with a 2.43-fold increased likelihood of a poor response.
The researchers note that at the present time, cost considerations preclude screening for this SNP and using alternative urate-lowering therapies.
However, they add that “[a]s genetic testing becomes less expensive and more rapid, and cheaper generic versions of [urate-lowering therapies] such as febuxostat become available, this may change.”
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