Markers / Condition
Which genes affect kidney disease and gout?
Humans uniquely hoard uric acid: an ancestor lost the enzyme that breaks it down, which is why we get gout and almost no other animal does. Kidney disease sits beside it because of one of the clearest ancestry-specific findings in medicine.
The markers
Uric acid, and why humans keep so much of it
rs734553 · SLC2A9
Most mammals break uric acid down. Our ancestors lost that enzyme, and we retain uric acid instead, which is why humans get gout and almost nothing else does. Uric acid is a useful antioxidant and may have helped store fat from fruit, but in a world of beer, sugar and meat it crystallises in joints. SLC2A9 is the kidney transporter that decides how much you keep.
Two copies: You have the lower-urate version on both copies
ABCG2, statin response and uric acid
rs2231142 · ABCG2
ABCG2 is a transporter that pumps drugs and waste out of cells. This reduced-function change raises blood levels of rosuvastatin and is also one of the strongest common genetic causes of raised uric acid and gout.
Two copies: Poor function
APOL1 and kidney disease
rs73885319 · APOL1
Two APOL1 variants protect against African sleeping sickness and, in two copies, substantially raise the risk of chronic kidney disease. They are essentially absent outside people of recent West African ancestry, and they explain a large part of the excess kidney disease burden in that population. This is one of the clearest cases where ancestry genuinely changes what a genetic result means.
Two copies: Two copies, which is worth telling your doctor about
The salt-and-water system, and why it now works against us
rs5186 · AGTR1
The renin-angiotensin system evolved to hold on to salt and water, which was the right instinct for almost all of human history. In an environment of abundant salt it contributes to high blood pressure, and it is the system that ACE inhibitors and angiotensin blockers act on.
Two copies: You have the variant version on both copies
Which versions do you carry?
All of these are readable from an ordinary home DNA test file, in your browser, without uploading it anywhere.
Read my fileCommon questions
Which genes affect kidney disease and gout?
Humans uniquely hoard uric acid: an ancestor lost the enzyme that breaks it down, which is why we get gout and almost no other animal does. Kidney disease sits beside it because of one of the clearest ancestry-specific findings in medicine. The markers most often cited are rs734553 in SLC2A9, rs2231142 in ABCG2, rs73885319 in APOL1, rs5186 in AGTR1.
What does rs734553 do?
Most mammals break uric acid down. Our ancestors lost that enzyme, and we retain uric acid instead, which is why humans get gout and almost nothing else does. Uric acid is a useful antioxidant and may have helped store fat from fruit, but in a world of beer, sugar and meat it crystallises in joints. SLC2A9 is the kidney transporter that decides how much you keep. Carrying two copies: you have the lower-urate version on both copies.
What does rs2231142 do?
ABCG2 is a transporter that pumps drugs and waste out of cells. This reduced-function change raises blood levels of rosuvastatin and is also one of the strongest common genetic causes of raised uric acid and gout. Carrying two copies: poor function.
What does rs73885319 do?
Two APOL1 variants protect against African sleeping sickness and, in two copies, substantially raise the risk of chronic kidney disease. They are essentially absent outside people of recent West African ancestry, and they explain a large part of the excess kidney disease burden in that population. This is one of the clearest cases where ancestry genuinely changes what a genetic result means. Carrying two copies: two copies, which is worth telling your doctor about.
What does rs5186 do?
The renin-angiotensin system evolved to hold on to salt and water, which was the right instinct for almost all of human history. In an environment of abundant salt it contributes to high blood pressure, and it is the system that ACE inhibitors and angiotensin blockers act on. Carrying two copies: you have the variant version on both copies.
Reference information, not medical advice and not a diagnosis. See the medical disclaimer.