PMID- 33023259 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20201207 IS - 2075-4426 (Print) IS - 2075-4426 (Electronic) IS - 2075-4426 (Linking) VI - 10 IP - 4 DP - 2020 Oct 2 TI - The Genetics of Spondyloarthritis. LID - 10.3390/jpm10040151 [doi] LID - 151 AB - The term spondyloarthritis (SpA) encompasses a group of chronic inflammatory diseases with common features in terms of clinical presentation and genetic predisposition. SpA is characterized by inflammation of the spine and peripheral joints, and is also be associated with extra-articular inflammatory manifestations such as psoriasis, uveitis, or inflammatory bowel disease (IBD). The etiology of SpA is not completely understood, but it is known to have a strong genetic component dominated by the human leukocyte antigen (HLA)-B27. In the last few years, our understanding of genetic susceptibility to SpA, particularly ankylosing spondylitis (AS), has greatly improved thanks to the findings derived from powered genome-wide association studies (GWAS) based on single nucleotide polymorphism (SNP) arrays. These studies have identified many candidate genes, therefore providing new potential directions in the exploration of disease mechanisms, especially with regard to the key role of the immune system in the pathogenesis of SpA. SpA is a complex disease where genetic variability, environmental factors, and random events interact to trigger pathological pathways. The aim of this review is to summarize current findings on the genetics of SpA, some of which might help to study new treatment approaches. FAU - Diaz-Pena, Roberto AU - Diaz-Pena R AUID- ORCID: 0000-0002-0114-2292 AD - Faculty of Health Sciences, Universidad Autonoma de Chile, Talca 3460000, Chile. FAU - Castro-Santos, Patricia AU - Castro-Santos P AD - Inmunologia, Centro de Investigaciones Biomedicas (CINBIO), Universidad de Vigo, 36310 Vigo, Spain. FAU - Duran, Josefina AU - Duran J AUID- ORCID: 0000-0001-7376-7729 AD - Department of Rheumatology, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago 7690000, Chile. FAU - Santiago, Catalina AU - Santiago C AD - Faculty of Sport Sciences, European University of Madrid, 28670 Madrid, Spain. FAU - Lucia, Alejandro AU - Lucia A AD - Faculty of Sport Sciences, European University of Madrid, 28670 Madrid, Spain. AD - Research Institute Hospital 12 de Octubre ('imas12'), 28041 Madrid, Spain. LA - eng GR - 11130198/Fondo Nacional de Desarrollo Cientifico y Tecnologico/ PT - Journal Article PT - Review DEP - 20201002 PL - Switzerland TA - J Pers Med JT - Journal of personalized medicine JID - 101602269 PMC - PMC7711559 OTO - NOTNLM OT - ERAP1 OT - HLA-B27 OT - KIR OT - ankylosing spondylitis OT - ethnic group OT - genetics OT - genome-wide association studies OT - polymorphism OT - spondyloarthritis COIS- The authors declare no conflict of interest. EDAT- 2020/10/08 06:00 MHDA- 2020/10/08 06:01 PMCR- 2020/10/02 CRDT- 2020/10/07 01:02 PHST- 2020/08/06 00:00 [received] PHST- 2020/09/17 00:00 [revised] PHST- 2020/09/24 00:00 [accepted] PHST- 2020/10/07 01:02 [entrez] PHST- 2020/10/08 06:00 [pubmed] PHST- 2020/10/08 06:01 [medline] PHST- 2020/10/02 00:00 [pmc-release] AID - jpm10040151 [pii] AID - jpm-10-00151 [pii] AID - 10.3390/jpm10040151 [doi] PST - epublish SO - J Pers Med. 2020 Oct 2;10(4):151. doi: 10.3390/jpm10040151.