rs12435583 - FCF1 - YLPM1

Magnitude 2.2 · 3 studies on file

Reported associations

  • A scalable variational inference approach for increased mixed-model association power - Unknown journal (n.d.) · Unknown authors · PubMed 39789286

    ABSTRACT: The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing the benefits of large-scale data collection efforts. We developed Quickdraws, a method that increases association power in quantitative and binary traits without sacrificing computational efficiency, leveraging a spike-and-slab prior on variant effects, stochastic variational inference and graphics processing unit acceleration. We applied Quickdraws to 79 quantitative and 50 binary traits in 405,088 UK Biobank samples, identifying 4.97% and 3.25% more associations than REGENIE and 22.71%

  • The genetic basis of dermatophytosis skin infection susceptibility - Unknown journal (n.d.) · Unknown authors · PubMed 41792138

    ABSTRACT: Dermatophytosis is a fungal infection affecting keratinized tissues such as skin, nails, and hair, presenting as red and itchy patches, nail thickening, or hair loss. It affects around 20% of the global population but the genetic architecture remains poorly understood. We performed a genome-wide association meta-analysis of over 250,000 cases and 1.37 million controls from FinnGen, Estonian Biobank, UK Biobank, and the Million Veteran Program and identified 30 genome-wide significant loci, including seven missense variants and two loci in high linkage disequilibrium with missense variants. Top associations were near ZNF646, HLA-DQB1, FLG, FTO, SLURP2, and KRT77. Additionally, dermatophytosis subtype analyses revealed 44 signals. Our results highlight the role of disrupted keratin

  • A genetic map of human metabolism across the allele frequency spectrum - Unknown journal (n.d.) · Unknown authors · PubMed 41044249

    ABSTRACT: Genetic studies of human metabolism have been limited in scale and allelic breadth. Here we provide a data-driven map of the genetic regulation of circulating small molecules and lipoprotein characteristics (249 traits) measured using proton nuclear magnetic resonance spectroscopy across the allele frequency spectrum in ~450,000 individuals. Trans-ancestral meta-analyses identify 29,824 locus-metabolite associations mapping to 753 regions with effects largely consistent between men and women and large ancestral groups represented in UK Biobank. We observe and classify extreme genetic pleiotropy, identify regulators of lipid metabolism, and assign effector genes at >100 loci through rare-to-common allelic series. We propose roles for genes less established in metabolic control (


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Lifestyle context

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

Discuss with your doctor

  • genetic risk for fungal nails and prevention strategy Moderate

    Significant genetic predisposition warrants proactive clinical assessment and prevention planning

    Discuss preventive antifungal options and monitoring strategy with healthcare provider

Lifestyle

  • barefoot walking in communal damp environments Moderate

    GWAS association indicates heightened susceptibility to dermatophyte infection through tinea unguium

    Wear protective footwear in pools, gyms, locker rooms, saunas; avoid barefoot contact with damp surfaces

  • nail hygiene and fungal prevention practices Moderate

    Variant increases RPS6KL1 expression in skin and fibroblasts, potentially affecting skin barrier function and fungal resistance

    Keep nails trimmed short, clean and dry; avoid nail trauma; wash feet and nails daily

Screening

  • regular visual inspection of nails for fungal infection Moderate

    Large GWAS (n=1.7M, p=9e-9) identified strong association between this variant and tinea unguium

    Examine nails monthly for discoloration, thickening, crumbling, or separation from nail bed