rs10901811 - FAM53B: uric acid and kidney function

Key takeaways

  • Associated with higher serum uric acid
  • Linked to lower eGFR
  • Correlated with higher creatinine

Key takeaways

  • Associated with higher serum uric acid
  • Linked to lower eGFR
  • Correlated with higher creatinine

What the research says This variant is associated with serum uric acid levels, reported effect size 0.015 p=7e-14 in about 473 thousand individuals [PMID 34594039]. This variant is linked to estimated glomerular filtration rate based on creatinine and cystatin C, reported effect size 4.2 p=8e-53 in about 417 thousand individuals [PMID 39927731]. This variant is associated with creatinine levels, reported effect size 0.02 p=2e-43 in about 928 thousand individuals [PMID 40436827].

Reported associations

  • Uric acid: the variant increases serum uric acid by a small amount, effect size 0.015 p=7e-14 [PMID 34594039].
  • eGFR: the variant lowers eGFR, effect size 4.2 p=8e-53 [PMID 39927731].
  • Creatinine: the variant raises creatinine, effect size 0.02 p=2e-43 [PMID 40436827].

Evidence quality The supplied studies do not report a direct trait association for this variant; the rsid appears via GWAS Catalog entries. The evidence is strong with large sample sizes and very low p-values but no replication beyond catalog.

Tissue-specific expression effects

  • EEF1AKMT2: increased expression in brain nucleus accumbens basal ganglia, artery aorta, adipose visceral omentum, cells cultured fibroblasts, adipose subcutaneous, thyroid, artery tibial, esophagus mucosa, artery tib GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Genetic kidney disease risk and monitoring strategy High

    This SNP has genome-wide significant associations with kidney function markers, warranting clinical assessment of disease risk and appropriate monitoring

Screening

  • Kidney function - creatinine and eGFR High

    This SNP shows genome-wide significant association with elevated creatinine and reduced eGFR, indicating genetic predisposition to kidney dysfunction

    Annual testing of creatinine, eGFR, and cystatin C

Frequently asked questions

What does rs10901811 do?

rs10901811 is a common variant that tends to increase serum uric acid and reduce kidney function.

Is this linked to gout?

The variant is associated with higher uric acid which can contribute to gout risk but the evidence is limited.

Does it affect creatinine levels?

Yes, carriers tend to have slightly higher creatinine levels as shown in large studies.