Expressive

rs12132349 - INAVA

Magnitude 2.8 · 3 studies on file

Reported associations

  • Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations - Unknown journal (n.d.) · Unknown authors · PubMed 30572963

    ABSTRACT: Background In recent years, research has consistently proven the occurrence of genetic overlap across autoimmune diseases, which supports the existence of common pathogenic mechanisms in autoimmunity. The objective of this study was to further investigate this shared genetic component. Methods For this purpose, we performed a cross-disease meta-analysis of Immunochip data from 37,159 patients diagnosed with a seropositive autoimmune disease (11,489 celiac disease (CeD), 15,523 rheumatoid arthritis (RA), 3477 systemic sclerosis (SSc), and 6670 type 1 diabetes (T1D)) and 22,308 healthy controls of European origin using the R package ASSET. Results We identified 38 risk variants shared by at least two of the conditions analyzed, five of which represent new pleiotropic loci in autoim

  • Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations observed with Ankylosing Spondylitis - Unknown journal (n.d.) · Unknown authors · PubMed 25200001

    ABSTRACT: Objective To use high density genotyping to investigate the genetic associations of acute anterior uveitis (AAU) in patients both with and without ankylosing spondylitis (AS). Method We genotyped 1,711 patients with AAU (either primary or with AAU and AS), 2,339 AS patients without AAU, and 10,000 controls on the Illumina Immunochip Infinium microarray. We also used data on AS patients from previous genomewide association studies to investigate the AS risk locus ANTXR2 for its putative effect in AAU. ANTXR2 expression in mouse eyes was investigated by RT-PCR. Results Comparing all AAU cases with HC, strong association was seen over HLA-B corresponding to the HLA-B27 tag SNP rs116488202. Three non-MHC loci IL23R, the intergenic region 2p15 and ERAP1 were associated at genome-wide

  • Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders - Unknown journal (n.d.) · Unknown authors · PubMed 36753304

    ABSTRACT: Key Points Question To what extent are shared genetic determinants in the comorbidities and associations between gastrointestinal tract diseases and psychiatry disorders involved in the gut-brain axis? Findings In this genome-wide pleiotropic association study using genome-wide association summary statistics from publicly available data sources, pervasive genetic correlations and genetic overlaps between gastrointestinal tract diseases and psychiatric disorders were found. The pleiotropic genetic determinants between them were extensively distributed across the genome. Meaning These findings not only support the shared genetic basis underlying the gut-brain axis but also have important implications for intervention and treatment targets of these 2 types of diseases simultaneously

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