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Ann Clin Transl Neurol. 2015 Oct;2(10):972-7. doi: 10.1002/acn3.229. Epub 2015 Jul 31.

Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients.

Annals of clinical and translational neurology

Caleb A Lareau, Indra Adrianto, Albert M Levin, Michael C Iannuzzi, Benjamin A Rybicki, Courtney G Montgomery

Affiliations

  1. Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation Oklahoma City, Oklahoma ; Departments of Biostatistics, Harvard University Cambridge, Massachusetts.
  2. Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation Oklahoma City, Oklahoma.
  3. Department of Public Health Services, Henry Ford Health System Detroit, Michigan ; Center for Bioinformatics, Henry Ford Health System Detroit, Michigan.
  4. Department of Medicine, Upstate Medical University Syracuse, New York.
  5. Department of Public Health Services, Henry Ford Health System Detroit, Michigan.

PMID: 26478897 PMCID: PMC4603380 DOI: 10.1002/acn3.229

Abstract

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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