Expressive

rs10912488 - SLC25A38P1 - AIMP1P2

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries - Unknown journal (n.d.) · Unknown authors · PubMed 37156999

    ABSTRACT: Inflammatory bowel diseases (IBD) are chronic disorders of the gastrointestinal tract with two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most IBD genetic associations were derived from individuals of European ancestries (EUR). Here we report the largest IBD study of individuals of East Asian ancestries (EAS), including 14,393 cases and 15,456 controls. We found 80 IBD loci in EAS alone and 320 when meta-analyzed with ~370,000 EUR individuals (~30,000 cases), among which 81 are novel. EAS enriched coding variants implicate many new IBD genes, including ADAP1 and GIT2. While IBD genetic effects are generally consistent across ancestries, genetics underlying CD appears more ancestry dependent than UC, driven by both allele frequency (NOD2) and effect (TN

  • 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

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Lifestyle context

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

Lifestyle

  • Skin barrier maintenance Moderate

    Skin barrier integrity and keratinocyte function protect against dermatophytosis; this variant may impair these protective mechanisms.

    Maintain skin hygiene, keep skin dry especially in warm/humid conditions, avoid skin trauma and shared personal items.

Screening

  • Dermatophytosis symptoms Moderate

    Variant rs10912488 A allele increases ringworm susceptibility 3.2% per copy (p=3e-16) via mechanisms affecting skin barrier or immune defense.

    Watch for unexplained red/scaly skin patches, hair loss, or nail changes; seek evaluation if present.