Expressive

rs12437816 - UBE2Q2 - FBXO22

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants - Unknown journal (n.d.) · Unknown authors · PubMed 37919891

    ABSTRACT: Background Chronic kidney disease is a significant health burden worldwide, with increasing incidence. Although several genome-wide association studies (GWAS) have investigated single nucleotide polymorphisms (SNP) associated with kidney trait, most studies were focused on European ancestry. Methods We utilized clinical and genetic information collected from the Korean Genome and Epidemiology Study (KoGES). Results More than five million SNPs from 58,406 participants were analyzed. After meta-GWAS, 1,360 loci associated with estimated glomerular filtration rate (eGFR) at a genome-wide significant level (p = 5 × 10-8) were identified. Among them, 399 loci were validated with at least one other biomarker (blood urea nitrogen [BUN] or eGFRcysC) and 149 loci were validated using b

  • Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease - Unknown journal (n.d.) · Unknown authors · PubMed 36777996

    ABSTRACT: Summary Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic loci across a range of human diseases and traits. However, most biobanks are primarily composed of individuals of European ancestry. We introduce the Global Biobank Meta-analysis Initiative (GBMI)-a collaborative network of 23 biobanks from 4 continents representing more than 2.2 million consented individuals with genetic data linked to electronic health records. GBMI meta-analyzes summary statistics from GWASs generated using harmonized genotypes and phenotypes from member biobanks for 14 exemplar diseases and endpoints. This strategy validates that GWASs conducted in diverse biobanks can be integrated despite heterogeneity in case definitions, recruitment strategies, and baseline ch

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Lifestyle context

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

Diet

  • adequate daily hydration Moderate

    Increased fluid intake enhances urinary uric acid excretion and dilutes serum urate concentration.

    Aim for 2.5 to 3 liters of water daily.

  • beer and other alcoholic beverages Moderate

    Alcohol reduces renal uric acid excretion and increases serum urate; beer contains additional purines from yeast.

    Limit to fewer than 2 drinks per week or eliminate entirely.

  • high-fructose corn syrup and sugary beverages Moderate

    Fructose metabolism increases de novo purine synthesis and serum uric acid levels.

    Limit regular soda, fruit juices, and processed foods with HFCS.

  • high-purine foods and red meat Moderate

    High purine intake increases serum uric acid levels, triggering gout in genetically predisposed individuals.

    Limit red meat, organ meats, anchovy, sardine to no more than once weekly.

Discuss with your doctor

  • genetic gout risk and personalized prevention strategies Moderate

    This SNP shows extremely strong association with gout; discussion enables targeted risk management.

Lifestyle

  • maintain healthy body weight Moderate

    Obesity and weight gain increase serum uric acid production and reduce renal uric acid excretion.

    Work toward BMI 18.5-25 kg/m2 through balanced diet and regular exercise.

Screening

  • serum uric acid level Moderate

    Genetic predisposition to gout warrants screening and tracking of serum uric acid to enable early intervention.

    Obtain baseline serum uric acid; repeat annually or as recommended by provider.