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    X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.

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    Author
    Misra, Sharat
    Keyword
    X-wide association study
    Meta-analysis
    Superenhancer
    Date
    2021-06
    
    Metadata
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    Publisher's URL
    https://www.gastrojournal.org/article/S0016-5085(21)00466-2/fulltext?referrer=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F
    Abstract
    Background & Aims Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. Results Single-marker association analyses found approximately 100 loci displaying P < 5 × 10–4, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10–6; odds ratio [OR], 1.39; 95% confidence interval [CI], 1.028–1.88; Japanese cohort). Although the transethnic meta-analysis evidenced only a suggestive signal (rs2239452, mapping within the PIM2 gene; OR, 1.17; 95% CI, 1.09–1.26; P = 9.93 × 10–8), the population-specific meta-analysis showed a genome-wide significant locus in East Asian individuals pointing to the same region (rs7059064, mapping within the GRIPAP1 gene; P = 6.2 × 10–9; OR, 1.33; 95% CI, 1.21–1.46). Indeed, rs7059064 tags a unique linkage disequilibrium block including 7 genes: TIMM17B, PQBP1, PIM2, SLC35A2, OTUD5, KCND1, and GRIPAP1, as well as a superenhancer (GH0XJ048933 within OTUD5) targeting all these genes. GH0XJ048933 is also predicted to target FOXP3, the main T-regulatory cell lineage specification factor. Consistently, OTUD5 and FOXP3 RNA levels were up-regulated in PBC case patients (1.75- and 1.64-fold, respectively). Conclusions This work represents the first comprehensive study, to our knowledge, of the chrX contribution to the genetics of an autoimmune liver disease and shows a novel PBC-related genome-wide significant locus.
    Citation
    Walker, X. M. M. P. G. A. J. L. L. G. J. A. E. G. A. R. K. C. E. B. K. Y. X. K. C. et al. (2021) ‘X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis’, Gastroenterology, 160(7), pp. 2483–2495
    Publisher
    Gastroenterology
    Type
    Article
    URI
    http://hdl.handle.net/20.500.12904/15147
    Collections
    Gastroenterology and Hepatology Services

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