Cross-phenotype analysis of Immunochip data identifies <i>KDM4C</i> as a relevant <i>locus</i> for the development of systemic vasculitis.

ABSTRACT:

Objetive

Systemic vasculitides represent a heterogeneous group of rare complex diseases of the blood vessels with a poorly understood aetiology. To investigate the shared genetic component underlying their predisposition, we performed the first cross-phenotype meta-analysis of genetic data from different clinically distinct patterns of vasculitis.

Methods

Immunochip genotyping data from 2465 patients diagnosed with giant cell arteritis, Takayasu's arteritis, antineutrophil cytoplasmic antibody-associated vasculitis or IgA vasculitis as well as 4632 unaffected controls were analysed to identify common susceptibility loci for vasculitis development. The possible functional consequences of the associated variants were interrogated using publicly available annotation data

SUBMITTER: Ortiz-Fernandez L 

PROVIDER: S-EPMC5849568 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature