Caleb A Lareau, Indra Adrianto, Albert M Levin, Michael C Iannuzzi, Benjamin A Rybicki, Courtney G Montgomery
Annals of clinical and translational neurology 2015 OctNeurosarcoidosis 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).
Caleb A Lareau, Indra Adrianto, Albert M Levin, Michael C Iannuzzi, Benjamin A Rybicki, Courtney G Montgomery. Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients. Annals of clinical and translational neurology. 2015 Oct;2(10):972-7
PMID: 26478897
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