Publication:
Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients

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2015

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John Wiley & Sons, Ltd
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Lareau, Caleb A, Indra Adrianto, Albert M Levin, Michael C Iannuzzi, Benjamin A Rybicki, and Courtney G Montgomery. 2015. “Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients.” Annals of Clinical and Translational Neurology 2 (10): 972-977. doi:10.1002/acn3.229. http://dx.doi.org/10.1002/acn3.229.

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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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