Genetics of rheumatoid arthritis: a new boost is needed in Latin American populations

Abstract

Rheumatoid arthritis (RA) is an autoimmune inflammatory rheumatic disease which affects several organs and tissue, predominantly the synovial joints. Like many other autoimmune diseases, RA is a complex disease, where genetic variants, environmental factors and random events interact to trigger pathological pathways. Genetic implication in RA is evident, and recent advances have expanded our knowledge about the genetic factors that contribute to RA. An exponential increment in the number of genes associated with the disease has been described, mainly through gene wide screen studies (GWAS) involving international consortia with large patient cohorts. However, there are a few studies on Latin American populations. This article describes what is known about the RA genetics, the future that is emerging, and how this will develop a more personalized approach for the treatment of the disease. Latin American RA patients cannot be excluded from this final aim, and a higher collaboration with the international consortia may be needed for a better knowledge of the genetic profile of patients from this origin.

Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response

“…This could be explained by a significant proportion of Spanish origin RA patients amongst all of the examined patients. At the same time, the RA candidate genes attributable to Latin American populations have only been described in recent years, such as ENOX1 on chromosome 13 and NNA25 on chromosome 12 [ 7 ].…”

“…Eighteen percent of the ACPA-positive and 2.4% of the ACPA-negative RA hereditary component is associated with these alleles. Predisposing HLA-DRB1 SE alleles are found in 64–70% of RA patients and 55% of their healthy relatives, while only being found in 35% of the average population [ 7 ].…”

Therapeutic effect of quercetin in collagen-induced arthritis

“…Patients with RA suffer progressive disability and increased risk of death [8]. Genetic, hormonal and environmental factors have been related to RA [9][10][11][12]. DMARDs such as Janus kinase inhibitors [13].…”

HLA-DRB1*07:01 and *08:02 Alleles Confer a Protective Effect Against ACPA-Positive Rheumatoid Arthritis in a Latin American Admixed Population

“…Since Exon 2 of HLA-DRB1 , which encodes the antigen recognition site, is the most variable region, differences in antigen presentation can be largely related to polymorphisms in HLA-DRB1 . Interestingly, ethnic differences in the distribution of specific HLA-DRB1 SE alleles worldwide have been reported [ 17 ], and these alleles have been shown to be the most important genetic risk factors to develop ACPA-positive RA in Caucasians [ 18 ]. In turn, in studies in Latin American (LA) populations with a large proportion of European ancestry some HLA-DRB1 alleles have also been associated with RA [ 18 ], and also a meta-analysis seemed to revalidate the SE hypothesis in LA populations [ 19 , 20 ] In spite of this, whether the association of HLA-DRB1 and RA is valid in all ethnic groups remains unclear.…”