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


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).

SUBMITTER: Lareau CA 

PROVIDER: S-EPMC4603380 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

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

Lareau Caleb A CA   Adrianto Indra I   Levin Albert M AM   Iannuzzi Michael C MC   Rybicki Benjamin A BA   Montgomery Courtney G CG  

Annals of clinical and translational neurology 20150731 10


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  ...[more]

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