What you carry at this position in your DNA and what research says about it.
Stroke and Gout Risk: 5/10 evidence, 16 publications.
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Sample genotype (not yours): C/C
Higher Risk of Stroke and Gout
Carrying two copies of the common C allele is associated with a higher risk of ischemic stroke and gout. It may also lead to typical processing of several chemotherapy drugs.
What this genotype means: Higher risk of ischemic stroke; Increased susceptibility to gout; Decreased survival on R-CHOP therapy.
Sample genotype (not yours): C/T
Lower Risk of Stroke and Gout
Carrying one copy of the T allele is associated with a lower risk of stroke and gout
What this genotype means: Lower risk of ischemic stroke; Reduced susceptibility to gout; Increased risk of irinotecan-induced diarrhea.
Sample genotype (not yours): T/T
Lowest Risk of Stroke and Gout
Carrying two copies of the T allele provides strong protection against stroke and gout
What this genotype means: Lowest risk of ischemic stroke; Lowest susceptibility to gout; Increased risk of irinotecan-induced diarrhea.
Gene function and biological role
Gene Function: ABCG2 encodes a major multi-drug transporter protein called breast cancer resistance protein, which is highly active in the gut, liver, kidneys, and blood-brain barrier [1]. This transporter plays a critical role in pumping metabolic waste products, such as uric acid, and various medications out of cells [2]. When ABCG2 function is altered, it can lead to the buildup of uric acid in the blood or affect how the body processes specific drugs [2]. It is also highly involved in protecting tissues from toxic foreign compounds and environmental xenobiotics [1].
Variant Impact: The rs2231137 variant, also known as Val12Met, causes a missense mutation in the ABCG2 gene, changing the amino acid valine to methionine at position 12 of the protein. This structural change alters the transport efficiency of the protein, affecting both uric acid excretion and drug clearance. The major C allele represents the typical, fully active form of the transporter, while the minor T allele is associated with altered transport activity. This variation influences susceptibility to cardiovascular events, metabolic conditions like gout, and sensitivity to several chemotherapy agents.
Key Insight: The minor T allele of this variant is protective against both stroke and gout, but it simultaneously increases the risk of toxicity for several common chemotherapy drugs.
Location: ABCG2. Chromosome 4 · 4q22.1 · 88.1 Mb
Estimated prevalence by population
Global 85.4%; European 92.7%; African 87.6%; East Asian 47.3%; South Asian 71.1%; Americas 71.3%; Ashkenazi 80.6%; Finnish 76.1%; Middle Eastern 85.0%; Amish 91.4%.
Estimated CC genotype frequency.
Global 13.6%; European 7.1%; African 11.9%; East Asian 42.9%; South Asian 26.5%; Americas 26.3%; Ashkenazi 18.4%; Finnish 22.3%; Middle Eastern 14.4%; Amish 8.4%.
Estimated CT genotype frequency.
Global 1.0%; European 0.1%; African 0.4%; East Asian 9.7%; South Asian 2.5%; Americas 2.4%; Ashkenazi 1.0%; Finnish 1.6%; Middle Eastern 0.6%; Amish 0.2%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Stroke
Ischemic Stroke. Evidence: 5/10. Slightly Higher Risk.
Gout & Uric Acid
Gout. Evidence: 3/10. Source: PMID 32000861. Increased Risk.
Pharmacogenomics
Chemotherapy Response
Irinotecan Toxicity. Evidence: 5/10. Source: PMID 18221820. Typical Risk.
Imatinib Response. Evidence: 5/10. Source: PMID 30713339. Typical Response.
Palbociclib Toxicity. Evidence: 5/10. Source: PMID 39092502. Typical Risk.
Cancer & Oncology
Cancer Prognosis & Treatment Outcome
Lymphoma Treatment Outcome. Evidence: 5/10. Source: PMID 28938556. Decreased Survival.
Showing effects for C/T genotype
Ischemic Stroke. Evidence: 5/10. Slightly Lower Risk.
Gout. Evidence: 3/10. Source: PMID 32000861. Reduced Risk.
Irinotecan Toxicity. Evidence: 5/10. Source: PMID 18221820. Increased Diarrhea.
Imatinib Response. Evidence: 5/10. Source: PMID 30713339. Higher Sensitivity.
Palbociclib Toxicity. Evidence: 5/10. Source: PMID 39092502. Higher Neutropenia.
Lymphoma Treatment Outcome. Evidence: 5/10. Source: PMID 28938556. Typical Survival.
Showing effects for T/T genotype
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Possessing two copies of the typical, fully active ABCG2 transporter ensures standard clearance of many medications but is linked to a higher risk of ischemic stroke compared to carriers of the T allele. Long-term observational research has shown that homozygotes for the C allele have a significantly higher hazard ratio for stroke. Additionally, this genotype is associated with higher blood uric acid levels and an increased risk of developing gout [1]. In the context of cancer treatments like R-CHOP or rituximab, this genetic profile has been linked to decreased overall survival rates in clinical studies [2]. Conversely, it represents a standard baseline for several chemotherapy toxicities, meaning typical risk levels for certain drug-induced side effects. Standard dosing is typically appropriate for medications like imatinib and irinotecan. Finally, there is a typical likelihood of experiencing neutropenia when undergoing palbociclib therapy.
Higher risk of ischemic stroke; Increased susceptibility to gout; Decreased survival on R-CHOP therapy.
Sample genotype: CT (Heterozygous)
Possession of one copy of the protective T allele is associated with a lower risk of ischemic stroke and a reduced susceptibility to gout [1]. The altered transporter function helps maintain lower blood uric acid levels [2]. However, this genetic change can significantly impact how the body processes specific medications. Clinical studies indicate that the leukemia drug imatinib produces a stronger effect, with a greater toxicity risk [3]. There is also an increased risk of experiencing severe diarrhea when treated with the chemotherapy drug irinotecan [4]. Furthermore, undergoing palbociclib therapy with this profile is linked to a higher likelihood of developing neutropenia [5]. On the positive side, some evidence suggests a prolonged progression-free survival rate when treated with sunitinib for certain cancers [6].
Lower risk of ischemic stroke; Reduced susceptibility to gout; Increased risk of irinotecan-induced diarrhea.
Sample genotype: TT (Homozygous)
Inheriting two copies of the protective T allele provides the strongest genetic protection against ischemic stroke and gout within this locus [1]. The resulting reduction in ABCG2 transporter activity helps keep blood uric acid levels low [2]. Despite these metabolic benefits, this genotype can markedly alter the clearance of several therapeutic drugs. Clinical evidence shows that carriers are typically more sensitive to the leukemia medication imatinib, with a greater risk of adverse effects [3]. Patients undergoing chemotherapy with irinotecan face a significantly higher risk of severe drug-induced diarrhea [4]. Additionally, this profile may influence survival outcomes and toxicity risks across various cancer treatment regimens [5]. Proactive discussion of these drug-transport tendencies with a healthcare provider can help optimize personalized treatment plans.
Lowest risk of ischemic stroke; Lowest susceptibility to gout; Increased risk of irinotecan-induced diarrhea.
Variants with shared genetic architecture
rs2231142 · ABCG2 Gene · Chr 4 · Gout and Uric Acid Risk
rs4148155 · ABCG2 Gene · Chr 4 · Gout and Kidney Stones
rs2199936 · ABCG2 Gene · Chr 4 · Gout Risk
Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout.
Content updated August 2026.
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