Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients

Neurosarcoidosis is a clinical subtype of sarcoidosis characterized by the presence of granulomas in the nervous system. Here, we report a highly significant association with a variant (rs75652600, P = 3.12 × 10(−8), odds ratios = 4.34) within a zinc finger gene, ZNF592, from an imputation-based fin...

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Detalles Bibliográficos
Autores principales: Lareau, Caleb A, Adrianto, Indra, Levin, Albert M, Iannuzzi, Michael C, Rybicki, Benjamin A, Montgomery, Courtney G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603380/
https://www.ncbi.nlm.nih.gov/pubmed/26478897
http://dx.doi.org/10.1002/acn3.229
Descripción
Sumario:Neurosarcoidosis is a clinical subtype of sarcoidosis characterized by the presence of granulomas in the nervous system. Here, we report a highly significant association with a variant (rs75652600, P = 3.12 × 10(−8), odds ratios = 4.34) within a zinc finger gene, ZNF592, from an imputation-based fine-mapping study of the chromosomal region 15q25 in African-Americans with neurosarcoidosis. We validate the association with ZNF592, a gene previously shown to cause cerebellar ataxia, in a cohort of European-Americans with neurosarcoidosis by uncovering low-frequency variants with a similar risk effect size (chr15:85309284, P = 0.0021, odds ratios = 5.36).

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