Open AccessProgress of genome‐wide association studies of ankylosing spondylitis
Author(s) -
Li Zhixiu,
Brown Matthew A
Publication year - 2017
Publication title -
clinical and translational immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.321
H-Index - 34
ISSN - 2050-0068
DOI - 10.1038/cti.2017.49
Subject(s) - genome wide association study , ankylosing spondylitis , genetic association , spondylitis , disease , medicine , computational biology , biology , bioinformatics , genetics , immunology , single nucleotide polymorphism , gene , genotype , pathology
Ankylosing spondylitis (AS) is an immune‐mediated arthritis which primarily affects the spine and sacroiliac joints. Significant progress has been made in discovery of genetic associations with AS by genome‐wide association studies (GWAS) over past decade. These findings have uncovered novel pathways involved pathogenesis of the disease and have led to introduction of novel therapeutic treatments for AS. In this Review, we discuss the genetic variations associated with AS identified by GWAS, the major pathways revealed by these AS‐associated variations and critical cell types involved in AS development.