rs2231142

A SNP in the ABCG2 gene on chromosome 4. Its most notable genotype is T;T: causes gout

Gene
ABCG2
Location
Chr 488,131,171 (GRCh38)
Highest magnitude
3.5Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
14%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadcauses goutImportant · 3.53% of people
  2. G;TBad1.74x increased gout risk; gefinitib takers 4x more susceptible to diarrheaWorth knowing · 2.123% of people
  3. G;GGoodnormalTypical · 0.073% of people

SNPedia records rs2231142 on the minus strand: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 10 HapMap populations.

  • AverageT;T 3% G;T 23% G;G 73%
  • European ancestry (Utah)T;T <1% G;T 20% G;G 79%
  • Han Chinese (Beijing)T;T 9% G;T 41% G;G 50%
  • Japanese (Tokyo)T;T 10% G;T 49% G;G 42%
  • Yoruba (Nigeria)T;T 0% G;T 2% G;G 98%
  • African ancestry (Southwest US)T;T 0% G;T 9% G;G 91%
  • Chinese (Denver)T;T 8% G;T 48% G;G 44%
  • Gujarati IndianT;T 0% G;T 15% G;G 85%
  • Mexican ancestry (Los Angeles)T;T 5% G;T 35% G;G 60%
  • Maasai (Kenya)T;T 0% G;T 2% G;G 98%
  • TuscanT;T 1% G;T 13% G;G 86%

Conditions, medicines and genes

Other ABCG2 SNPs

All ABCG2 SNPs

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Show notes, about 280 words

rs2231142, also known as Q141K and C421A, is a SNP in the ABCG2 gene, indicating a missense variant. "Our data indicate that at least 10% of all gout cases in whites are attributable to this causal variant." A is the risk allele. A large study totaling 7,699 participants in the Framingham cohort and 4,148 participants in the Rotterdam cohort was conducted, with genome-wide significant SNPs then replicated in 11,000+ Caucasian and ~4,000 African-American individuals who took part in the study of Atherosclerosis Risk in Communities (ARIC). This study calculated an odds ratio of 1.74 for rs2231142 (CI: 1.51-1.99, p = 3.3x10e-15). A genetic score comprised of this SNP plus 2 others may stratify risk for gout. Among non-small cell lung cancer patients treated with gefitinib, there's a 4-5x higher risk of diarrhea for rs2231142 heterozygotes (and presumably minor allele homozygotes), based on a study of 124 patients treated with 250mg oral gefitinib once daily. rs2231142 also appears to influence the effectiveness of rosuvastatin. A study of 305 Chinese patients concluded that rs2231142(A;A) individuals showed a 7% greater reduction in LDL-C levels, equivalent to a doubling of the dose. See also: 23andMe blog gout

T;T

At least 10% of all gout cases in whites are attributable to this causal variant. 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 . Other reported effects include 4x higher risk of diarrhea when taking gefitinib and 2x effectiveness of rosuvastatin.

References

Source and license

Adapted from rs2231142 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.