Fine mapping of chromosome 15q25 implicates ZNF 592 in neurosarcoidosis patients

CA Lareau, I Adrianto, AM Levin… - Annals of Clinical …, 2015 - Wiley Online Library
CA Lareau, I Adrianto, AM Levin, MC Iannuzzi, BA Rybicki, CG Montgomery
Annals of Clinical and Translational Neurology, 2015Wiley Online Library
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, ZNF 592,
from an imputation‐based fine‐mapping study of the chromosomal region 15q25 in African‐
Americans with neurosarcoidosis. We validate the association with ZNF 592, a gene
previously shown to cause cerebellar ataxia, in a cohort of European‐Americans with …
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, = 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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