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rs2231142 ABCG2

ABCG2 Q141K homozygous. Significantly elevated uric acid levels and gout risk. Especially common in East Asian populations.

Curated · human-reviewed Health risk · Risk / effect allele: T · dbSNP

What is rs2231142?

rs2231142 is a single-nucleotide polymorphism (SNP) in the ABCG2 gene (ATP-binding cassette subfamily G member 2). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as TT. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs2231142 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
TTelevatedABCG2 Q141K homozygous. Significantly elevated uric acid levels and gout risk. Especially common in East Asian populations.88%
GT / TGslightly elevatedABCG2 Q141K carrier. Moderately elevated uric acid and gout risk.85%
GGtypical / lowerNormal uric acid transport. Typical gout risk.88%

How common is the T allele of rs2231142?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European10.0%
East Asian30.0%
African2.0%
South Asian10.0%
Admixed American8.0%
Global12.0%

Which drugs have annotations for rs2231142?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
rosuvastatinMetabolism/PK, Toxicity, Efficacy, Dosage, Other1A
allopurinolMetabolism/PK, Toxicity, Efficacy, Dosage, Other1A

Is rs2231142 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.