Work

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

Year: 2015

Type: article

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).

Source: Annals of Clinical and Translational Neurology

DOI: 10.1002/acn3.229

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

Institutions: Harvard University, Oklahoma Medical Research Foundation, Henry Ford Health, SUNY Upstate Medical University

Language: English

Topic: Sarcoidosis and Beryllium Toxicity Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $4,100