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rs2231142(A;A)

From SNPedia

causes gout
Is agenotype
ofrs2231142
GeneABCG2
Chromosome4
Position88,131,171
mentionedby
Magnitude3.5
ReputeBad
Geno Mag Summary
(A;A) 3.5 causes gout
(A;C) 2.1 1.74x increased gout risk; gefinitib takers 4x more susceptible to diarrhea
(C;C) 0 normal

At least 10% of all gout cases in whites are attributable to this causal variant. [PMID 19506252]

[PMID 26810134] ABCG2 loss-of-function polymorphism predicts poor response to allopurinol in patients with gout.

This variation influences uric acid concentrations and causes 53% reduced urate transport rates compared to wild-type.

Reduced transport of chemotherapeutic agents by this mutation [PMID 18370855].

Other reported effects include 4x higher risk of diarrhea when taking gefitinib and 2x effectiveness of rosuvastatin.