What ABCG2 rs2231142 Means in Your 23andMe Raw Data
The ABCG2 rs2231142 Q141K variant lowers uric acid clearance and raises gout risk. Here is what each 23andMe raw call actually means.
If your 23andMe raw file shows a risk allele at rs2231142, you carry the ABCG2 Q141K variant. That variant lowers the body's ability to clear uric acid, raises serum uric acid and increases gout risk. It is a risk marker, not a diagnosis.
ABCG2 rs2231142 is about clearance, not destiny. It changes how fast uric acid leaves your body, not whether you definitely get gout.
What does ABCG2 rs2231142 mean in my 23andMe raw data?
The variant is usually called 421C>A or Q141K in research. The risk allele is A on the gene's coding strand. Consumer raw files do not all use that strand. In many 23andMe files the same marker is reported as G/T, and T is the risk allele. If your file uses the coding strand, it reports C/A, not A/G, with A as the risk allele. A typical raw line looks like this:
rs2231142 4 89052323 G T
Depending on your file: - No risk allele: usually G/G, or C/C if the file uses the coding strand. - One risk allele: G/T, or A/C if the file uses the coding strand. - Two risk alleles: T/T, or A/A if the file uses the coding strand.
The pump behind the finding
ABCG2 encodes a protein called BCRP. In the kidney's proximal tubules and in the gut, BCRP sits in the cell membrane and exports uric acid from the blood into urine or the gut. Uric acid is what remains after the body breaks down purines. Humans lost the enzyme that breaks uric acid down further, so transport out of the body is the main route of disposal.
Q141K changes a single amino acid in BCRP. The altered pump is less stable and less efficient. Laboratory studies estimate the altered pump's transport function falls by roughly half compared with the normal pump. When the pump is weak, the same amount of purines produces a higher blood uric acid level.
How much does it actually change your numbers?
Each risk allele is associated with about 0.2 mg/dL higher serum uric acid in large studies. That is enough to move some people across the crystallization threshold, especially if other factors are already pushing urate up. For gout, the relative odds look like this:
These are odds ratios, not absolute risks. Most people with one risk allele never have gout. Even with two risk alleles, the lifetime risk stays below the point where gout is the default outcome. Sex, age, weight, kidney function, alcohol, fructose, diuretics and other urate genes all shift the actual probability more than this single marker alone.
What your raw call is and is not saying
| Risk alleles | Raw call | What it means |
|---|---|---|
| 0 | G/G | Normal BCRP urate transport |
| 1 | G/T | Reduced urate clearance, higher gout risk |
| 2 | T/T | Lowest urate clearance, highest genetic risk |
Scroll the table sideways for the rest →
For files that report G/T. T is the risk allele.
A few things the genotype does not say: - It does not diagnose gout. - It does not tell you your serum uric acid level. - It does not mean your kidneys are failing. - It does not by itself mean you need urate-lowering medication.
The follow-up people actually need
If your raw file shows a risk allele, the useful test is a serum uric acid level. It is cheap, widely available, and gives a current number instead of a lifelong genetic tendency. Typical lab ranges run from about 3.5 to 7.2 mg/dL depending on sex and the lab. People with gout are often treated to below 6 mg/dL, but a single reading without gout symptoms is just a snapshot. Uric acid rises after alcohol, fructose, dehydration and some diuretics, and it can drop during a flare.
The same lifestyle levers matter more when you carry a clearance variant: alcohol, sugary drinks, organ meats, shellfish, dehydration and carrying extra weight all raise the load your weaker pump has to clear.
What people get wrong about ABCG2
The most common mistake is treating T/T or A/A as a diagnosis. Another is ignoring it because gout sounds like a lifestyle problem. This variant explains part of why two people with the same diet and weight can have very different uric acid levels. And the reverse is also true: a clean ABCG2 genotype does not make you immune if your urate is high for other reasons.
The download steps for 23andMe, on the page itself.
The short version: what is worth acting on, first.
If you want to see how your own file calls this marker, the free DNA tool at HealthOS DNA analysis reads 23andMe, AncestryDNA, MyHeritage and whole-genome VCF files in the browser and includes ABCG2 in its single-variant findings. It will show your genotype, not your gout diagnosis.
New to raw DNA files? Start with the full guide: How to Download & Analyze Your 23andMe Raw Data Free
Written by
HealthOS Research