Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans.

Ocular Immunology and Inflammation
Lori GarmanCourtney G Montgomery

Abstract

Purpose: Identify genes associated with ocular sarcoidosis (OS).Methods: We genotyped 1.1 million genetic variants to identify significant OS associations, defined as those that achieved p < 5 × 10-8 in a genome-wide comparison of OS cases to healthy controls in our European- or African-American cohorts (EA, AA). Potential functional roles of all associated variants were assessed.Results: Eight significant non-HLA variants were found in AA OS cases compared to healthy controls and confirmed as at least suggestive when comparing OS to non-OS cases. Seven of these were within MAGI1 and include transcription factor binding sites and expression quantitative trait loci. Our EA cohort, while showing similar effect sizes at variants within MAGI1, had no significant variants. Association analysis of HLA-DRB1 alleles confirmed association to OS in EA to *04:01.Conclusion: Our results support organ-specific genetic risk in OS in a compelling candidate, MAGI1, known to be associated with barrier function and autoimmunity.

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Citations

Jul 24, 2020·Current Opinion in Pulmonary Medicine·Nicholas K ArgerLaura L Koth
Jul 24, 2020·Current Opinion in Pulmonary Medicine·Elizabeth V Arkema, Yvette C Cozier
Aug 23, 2020·Journal of Clinical Medicine·Alain CalenderYves Pacheco
Apr 30, 2021·Frontiers in Immunology·Masaki TakeuchiShigeaki Ohno
May 6, 2021·Ocular Immunology and Inflammation·Emmett T CunninghamManfred Zierhut
Jun 28, 2021·Current Opinion in Pulmonary Medicine·Paolo Spagnolo, Lisa A Maier

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