Expressive

rs113831804 - PACERR

Magnitude 2.8 · 1 study on file

Reported associations

  • Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease - Unknown journal (n.d.) · Unknown authors · PubMed 40216741

    ABSTRACT: Kidney stone disease is a multifactorial disease with increasing incidence worldwide. Trans-ancestry GWAS has become a popular strategy to dissect genetic structure of complex traits. Here, we conduct a large trans-ancestry GWAS meta-analysis on kidney stone disease with 31,715 cases and 943,655 controls in European and East Asian populations. We identify 59 kidney stone disease susceptibility loci, including 13 novel loci and show similar effects across populations. Using fine-mapping, we detect 1612 variants at these loci, and pinpoint 25 causal signals with a posterior inclusion probability >0.5 among them. At a novel locus, we pinpoint TRIOBP gene and discuss its potential link to kidney stone disease. We show that a cross-population polygenic risk score, PRS-CSxEAS&EUR, exhi

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Lifestyle context

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

Diet

  • adequate dietary calcium intake Moderate

    Dietary calcium binds oxalate in the intestine, reducing urinary oxalate excretion and stone risk.

    Maintain 800-1000 mg daily from food sources like dairy, leafy greens, and fortified foods

  • excessive sodium intake Moderate

    High sodium increases urinary calcium excretion, promoting calcium oxalate stone formation.

    Limit to less than 2300 mg daily

Discuss with your doctor

  • personalized kidney stone prevention strategy Moderate

    Individual urine chemistry and lifestyle factors determine optimal prevention approach.

    Request 24-hour urine testing and discussion of risk-specific preventive measures

Lifestyle

  • increase daily water intake Moderate

    Increased urine volume dilutes stone-forming substances, reducing crystallization risk.

    2-3 liters daily, adjust to maintain pale yellow urine color

Screening

  • baseline kidney imaging and urinalysis Moderate

    Early detection of nephrolithiasis or anatomic and metabolic predisposing factors.

    Consider baseline ultrasound or non-contrast CT, plus urinalysis for crystals and metabolites