4,104 results found
    1. Computational and Systems Biology
    2. Immunology and Inflammation

    Identifying the immune interactions underlying HLA class I disease associations

    Bisrat J Debebe et al.
    HLA class I-disease associations have been studied for decades; a new approach for investigating the underlying mechanism can overcome past problems with interpretation and help to understand the etiology of human diseases.
    1. Cell Biology

    Bid maintains mitochondrial cristae structure and function and protects against cardiac disease in an integrative genomics study

    Christi T Salisbury-Ruf et al.
    An integrative approach, combining genetic mouse and large-scale human genetics studies, was used to reveal a novel role for the Bcl-2 protein Bid in maintenance of mitochondrial function that alters susceptibility to myocardial infarction.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease

    Matteo D'Antonio et al.
    Analysis of the major histocompatibility complex using whole genome sequencing and RNA-seq data from hundreds of individuals provides novel insights into mechanisms underlying associations of this interval with disease.
    1. Neuroscience

    Bundle-specific associations between white matter microstructure and Aβ and tau pathology in preclinical Alzheimer’s disease

    Alexa Pichet Binette et al.
    White matter microstructure alterations in key bundles affected in Alzheimer's disease are related to amyloid and tau pathology in the preclinical phase of sporadic and autosomal-dominant Alzheimer's disease.
    1. Genetics and Genomics

    An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome

    Tom G Richardson et al.
    A resource to systematically explore the association between overall genetic risk for 162 risk factors and disease with 551 outcomes.
    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    The Crohn’s disease polymorphism, ATG16L1 T300A, alters the gut microbiota and enhances the local Th1/Th17 response

    Sydney Lavoie et al.
    Gnotobiotic and conventional mouse models of the IBD ATG16L1T300A SNP reveal gene-microbiota-immune interactions.
    1. Genetics and Genomics

    Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity

    Prithvi Raj et al.
    Genetic variations that underlie common autoimmune disease genes are predominantly regulatory and modify the expression of multiple genes within the HLA gene complex and throughout the immune system.
    1. Epidemiology and Global Health
    2. Medicine

    An agnostic study of associations between ABO and RhD blood group and phenome-wide disease risk

    Torsten Dahlén et al.
    The relationship between blood groups and disease is detangled, without preconceived ideas, using population-wide data, with millions of participants and lifetime follow-up, identifying not only previously known relationships but also new insights.
    1. Genetics and Genomics

    Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes

    Andrew D Skol et al.
    Integrating gene expression with genetic association data provided insights into the functional relevance of genetic risk for a complex disease, thus implicating folliculin as a putative diabetic retinopathy susceptibility gene.
    1. Computational and Systems Biology
    2. Microbiology and Infectious Disease

    Adjusting for age improves identification of gut microbiome alterations in multiple diseases

    Tarini S Ghosh et al.
    A multi-cohort analysis of 2,500 gut microbiomes and five major diseases discovers that disease-microbiome associations display specific age-centric trends, with diseases characterized by age-centric trends of species gain/loss.

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