Expressive

rs12123298 - RNF115

Magnitude 2.2 · 3 studies on file

Reported associations

  • Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. - Nature genetics (2019) · Kanai M, Akiyama M, Takahashi A, Matoba N, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y · PubMed 29403010

    Clinical measurements can be viewed as useful intermediate phenotypes to promote understanding of complex human diseases. To acquire comprehensive insights into the underlying genetics, here we conducted a genome-wide association study (GWAS) of 58 quantitative traits in 162,255 Japanese individuals. Overall, we identified 1,407 trait-associated loci (P < 5.0 × 10 ), 679 of which were novel. By incorporating 32 additional GWAS results for complex diseases and traits in Japanese individuals, we further highlighted pleiotropy, genetic correlations, and cell-type specificity across quantitative traits and diseases, which substantially expands the current understanding of the associated genetics and biology. This study identified both shared polygenic effects and cell-type specificity

  • Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels - Unknown journal (n.d.) · Unknown authors · PubMed 31578528

    ABSTRACT: Elevated serum urate levels cause gout and correlate with cardio-metabolic diseases via poorly understood mechanisms. We performed a trans-ethnic genome-wide association study of serum urate among 457,690 individuals, identifying 183 loci (147 novel) that improve prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardio-metabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci, and co-localization with gene expression in 47 tissues implicated kidney and liver as main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in liver and kidney, HNF1

  • Genome-Wide Association and Mendelian Randomization Analysis Reveal the Causal Relationship Between White Blood Cell Subtypes and Asthma in Africans - Unknown journal (n.d.) · Unknown authors · PubMed 34925446

    ABSTRACT: Background: White blood cell (WBC) traits and their subtypes such as basophil count (Bas), eosinophil count (Eos), lymphocyte count (Lym), monocyte count (Mon), and neutrophil counts (Neu) are known to be associated with diseases such as stroke, peripheral arterial disease, and coronary heart disease. Methods: We meta-analyze summary statistics from genome-wide association studies in 17,802 participants from the African Partnership for Chronic Disease Research (APCDR) and African ancestry individuals from the Blood Cell Consortium (BCX2) using GWAMA. We further carried out a Bayesian fine mapping to identify causal variants driving the association with WBC subtypes. To access the causal relationship between WBC subtypes and asthma, we conducted a two-sample Mendelian randomizatio

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Lifestyle context

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

Diet

  • alcohol, especially beer Moderate

    Alcohol, especially beer, increases uric acid production and impairs renal excretion; this variant predisposes to baseline urate elevation

    Minimize alcohol consumption; avoid beer if possible

  • organ meats, shellfish, red meat Moderate

    High-purine foods are metabolized to uric acid; this variant predisposes to elevated urate, making dietary purine restriction especially important

    Limit red meat and organ meats; emphasize poultry, eggs, low-purine seafood, legumes, vegetables

Discuss with your doctor

  • genetic predisposition to elevated uric acid and management Moderate

    This variant confers genetic predisposition to elevated uric acid; individualized prevention and management strategies may reduce disease risk

Lifestyle

  • adequate hydration Moderate

    Adequate hydration promotes renal uric acid excretion; this variant predisposes to elevated baseline urate

    Maintain adequate hydration; aim for pale urine color and minimum 2 liters water daily

Screening

  • serum uric acid levels Moderate

    Elevated serum uric acid from this genetic variant increases risk for gout, kidney disease, and cardiovascular complications

    Annual serum uric acid testing