Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans.
Ocul Immunol Inflamm
; 29(2): 244-249, 2021 Feb 17.
Article
en En
| MEDLINE
| ID: mdl-32141793
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 *0401.Conclusion:
Our results support organ-specific genetic risk in OS in a compelling candidate, MAGI1, known to be associated with barrier function and autoimmunity.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Sarcoidosis
/
Negro o Afroamericano
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Moléculas de Adhesión Celular
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Polimorfismo de Nucleótido Simple
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Proteínas Adaptadoras Transductoras de Señales
/
Guanilato-Quinasas
/
Oftalmopatías
/
Estudio de Asociación del Genoma Completo
/
Cadenas HLA-DRB1
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
País como asunto:
America do norte
Idioma:
En
Año:
2021
Tipo del documento:
Article