rs111884516 - MRFAP1P1 - DUSP9

Magnitude 2.2 · 1 study on file

Reported associations

  • X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements - Unknown journal (n.d.) · Unknown authors · PubMed 38233393

    ABSTRACT: X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits (n = 908,697), identifying 23 loci genome-wide significantly associated with two of the traits: 7 for uric acid and 16 for estimated glomerular filtration rate (eGFR), including four novel eGFR loci containing the functionally plausible prioritized genes ACSL4, CLDN2, TSPAN6 and the female-specific DRP2. Further, we identified five novel sex-interactions, comprising male-specific effects at FAM9B and AR/EDA2R, and three sex-differential findings with larger genetic effect sizes in males at DCAF12L1 and MST4 and larger effect size


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Lifestyle context

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

Diet

  • alcohol, particularly beer Moderate

    Ethanol inhibits renal uric acid excretion and beer contains purines; combined effect raises serum uric acid especially in those with genetic predisposition

    Minimize to moderate levels; avoid if gout history

  • high-fructose foods and sugar-sweetened beverages Moderate

    Fructose metabolism increases hepatic uric acid production; limiting intake reduces serum uric acid in those with genetic risk

    Minimize fruit juices, sodas, and high-fructose foods

  • high-purine foods: red meat, organ meats, shellfish Moderate

    Purines metabolize to uric acid; reducing dietary purine intake minimizes genetic predisposition to elevated serum uric acid

    Limit red meat to 1-2 servings per week; avoid organ meats and high-purine seafood

Exercise

  • regular aerobic exercise and weight management Moderate

    Obesity increases uric acid production and decreases renal clearance; weight loss and exercise improve both mechanisms

    150 minutes moderate aerobic activity per week; maintain BMI less than 25

Lifestyle

  • adequate hydration Moderate

    Increased water intake enhances renal clearance of uric acid, counteracting genetic predisposition

    2-3 liters daily; increase with exercise or heat exposure

Screening

  • serum uric acid level Moderate

    rs111884516-T associated with elevated uric acid production; regular monitoring identifies risk for gout and metabolic complications

    Check baseline; repeat annually or if symptoms develop