Expressive

rs11169225 - AQP5-AS1, AQP2

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis - Unknown journal (n.d.) · Unknown authors · PubMed 30013184

    [INTRO] Introduction [INTRO] Allergic rhinitis is the most common clinical presentation of allergy, affecting 400 million people worldwide, and with increasing incidence in westernized countries. To elucidate the genetic architecture and understand disease mechanisms of allergic rhinitis, we carried out a metaanalysis of allergic rhinitis in 59,762 cases and 152,358 controls of European ancestry and identified a total of 41 risk loci for allergic rhinitis, including 20 loci not previously associated with allergic rhinitis, which were confirmed in a replication phase of 60,720 cases and 618,527 controls. Functional annotation implied genes involved in various immune pathways, and fine mapping of the HLA region suggested amino acid variants of importance for antigen binding. We further perf

  • Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology - Unknown journal (n.d.) · Unknown authors · PubMed 29083406

    ABSTRACT: Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the same individuals, partly because of a shared genetic origin. To identify shared risk variants, we performed a genome-wide association study (GWAS, n=360,838) of a broad allergic disease phenotype that considers the presence of any one of these three diseases. We identified 136 independent risk variants (P<3x10-8), including 73 not previously reported, which implicate 132 nearby genes in allergic disease pathophysiology. Disease-specific effects were detected for only six variants, confirming that most represent shared risk factors. Tissue-specific heritability and biological process enrichment analyses suggest that shared risk variants influence lymphocyte-mediated immunity. Six target

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