rs111366529 - LINC01415 - LINC01416

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans. - Ocular immunology and inflammation (2021) · Garman L, Pezant N, Pastori A, Savoy KA, Li C, Levin AM, Iannuzzi MC, Rybicki BA, Adrianto I, Montgomery CG · PubMed 32141793

  : Identify genes associated with ocular sarcoidosis (OS). : We genotyped 1.1 million genetic variants to identify significant OS associations, defined as those that achieved < 5 × 10 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. : 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 and include transcription factor binding sites and expression quantitative trait loci. Our EA cohort, while showing similar effect sizes at variants within , had no significant variants. Association analysis of alleles confirmed associati

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