ABCG2 rs2231142: What Your Genotype Means for Uric Acid and Gout
The rs2231142 variant is a well-studied genetic change in the ABCG2 gene that influences how the body handles uric acid. It is strongly associated with elevated serum uric acid levels and an increased risk of developing gout.
What each genotype means
Typical urate transport
This genotype represents the common, fully functional version of the ABCG2 transporter. Individuals with this profile typically maintain standard urate excretion levels, as the protein is able to effectively transport uric acid out of the body.
This is the most common genotype globally, though frequencies vary significantly by ancestry.
Reduced urate transport
This genotype, often referred to as the Q141K variant, is associated with a partial loss of function in the ABCG2 transporter. Research indicates this may lead to reduced efficiency in excreting uric acid, which can contribute to higher serum urate levels and an increased statistical risk of developing gout. Please discuss any concerns regarding uric acid levels or gout risk with your clinician.
Carried by a significant portion of the population, with a minor allele frequency of approximately 10% globally, though it is more common in some populations than others.
Significantly reduced urate transport
This genotype results in a more pronounced reduction in the function of the ABCG2 transporter compared to those with one or no copies of the T allele. Because this transporter is critical for urate excretion, individuals with this profile may have a higher statistical likelihood of elevated serum uric acid and gout. Please discuss your health profile and any symptoms with your clinician or a rheumatologist.
This genotype is less common than the heterozygous state, with its prevalence varying by ancestral background.
Understanding the rs2231142 Variant
The rs2231142 variant is a single nucleotide polymorphism (SNP) located within the ABCG2 gene. In scientific literature, this specific change is often referred to as the Q141K mutation, which describes a substitution of the amino acid glutamine (Q) with lysine (K) at position 141 of the resulting protein. This change occurs in the coding sequence of the gene, meaning it directly alters the structure of the protein produced by the body. Because this protein is essential for transporting various molecules, this structural change can have functional consequences for how the body processes waste products like uric acid. Researchers track this variant closely because it serves as a primary genetic marker for understanding individual differences in urate metabolism and the subsequent risk of inflammatory conditions like gout.
The Role of the ABCG2 Gene
The ABCG2 gene provides instructions for making a protein known as the ATP-binding cassette sub-family G member 2. This protein acts as a transporter, moving various substances across cell membranes. One of its most critical roles is the excretion of urate—a byproduct of the breakdown of purines—from the body through the kidneys and intestines. When the ABCG2 transporter functions optimally, it helps maintain healthy levels of uric acid in the blood. However, the rs2231142 variant can impair the efficiency of this transport process. When the transporter is less effective, uric acid may accumulate in the bloodstream, a condition known as hyperuricemia. Over time, high levels of uric acid can lead to the formation of urate crystals in joints and tissues, which is the underlying cause of gout.
Research and Clinical Associations
The association between rs2231142 and gout is considered strong and has been replicated across multiple global populations. Large-scale studies and meta-analyses have consistently shown that individuals carrying the A allele are at a higher risk for hyperuricemia and gout compared to those with the C allele. Interestingly, research suggests that while the effect of this variant on uric acid levels is significant, its impact on the actual development of gout is even more pronounced, indicating that it may influence disease risk through multiple pathways. While this genetic evidence is robust, it is important to remember that gout is a complex condition influenced by a combination of genetics, diet, lifestyle, and other health factors. Genetic testing for this variant provides insight into biological predisposition but does not serve as a diagnostic tool for gout or a guarantee of future health outcomes.
What You Can Do With This Information
Knowing your genotype for rs2231142 can provide a clearer picture of your biological predisposition toward uric acid regulation. However, it is essential to approach this information as one piece of a much larger health puzzle. Because gout is multifactorial, having a higher-risk genotype does not mean you will inevitably develop the condition, nor does having a lower-risk genotype make you immune. If you are concerned about your uric acid levels or symptoms of gout, the most effective step is to consult with a healthcare professional. They can evaluate your clinical history, perform blood tests to measure actual uric acid levels, and provide personalized guidance on diet, lifestyle, or potential medical interventions. Never use genetic information to make independent medical decisions or to alter any prescribed medication regimens without first speaking with your clinician or pharmacist.
How common is this variant?
The rs2231142 variant is common globally, with the A allele frequency typically observed around 10% in many populations, though this can vary significantly by ancestry.
Frequently asked questions
Is rs2231142 a diagnostic test for gout?
No, rs2231142 is not a diagnostic test. While it is a known genetic risk factor, gout is a complex disease influenced by many factors, and a clinical diagnosis requires an evaluation by a doctor.
Can I change my risk if I have the AA genotype?
Genetic variants are fixed, but you can manage your health through lifestyle choices. Discuss diet, hydration, and other management strategies with your healthcare provider to address your specific uric acid levels.
Does this variant affect how medications work?
ABCG2 is a transporter that can influence the processing of certain drugs. If you are taking medication, always consult your pharmacist or doctor to discuss how your genetic profile might interact with your treatment.
Why is this variant called Q141K?
The name Q141K refers to the specific protein change caused by the SNP. It indicates that the amino acid glutamine (Q) at position 141 is replaced by lysine (K).
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Regulatory variant in ABCG2 associated with altered transporter expression, influencing uric acid levels and statin pharmacokinetics.
Common regulatory non-coding variant frequently analyzed alongside Q141K for ABCG2-mediated transport capacity.
A premature stop codon polymorphism (p.Gln126Ter) in ABCG2 that causes non-functional transporter activity, increasing rosuvastatin plasma concentrations.