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      Genetics of rheumatoid arthritis: a new boost is needed in Latin American populations Translated title: Genética da artrite reumatoide: é necessário um novo impulso em populações latino-americanas

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          Abstract

          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.

          Translated abstract

          RESUMO A artrite reumatoide (AR) é uma doença reumática inflamatória autoimune que afeta vários órgãos e tecidos, predominantemente as articulações sinoviais. Como muitas outras doenças autoimunes, a AR é uma doença complexa, em que variantes genéticas, fatores ambientais e eventos aleatórios interagem e desencadeiam vias patológicas. A implicação genética na AR é evidente e avanços recentes têm expandido nosso conhecimento sobre os fatores genéticos que contribuem para a doença. Houve um incremento exponencial na quantidade de genes associados à doença descritos, principalmente por estudos de associação genômica ampla (GWAS) que envolveram consórcios internacionais com grandes grupos de pacientes. No entanto, há poucos estudos em populações latino-americanas. Este artigo descreve o que é conhecido sobre a genética na AR, o que vem a seguir e como isso vai desenvolver uma abordagem mais personalizada para o tratamento da doença. Os pacientes latino-americanos com AR não podem ser excluídos desse objetivo final e pode ser necessária uma maior colaboração com os consórcios internacionais para se obter um melhor conhecimento do perfil genético dos pacientes provenientes dessa região.

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          Most cited references98

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          Gene map of the extended human MHC.

          The major histocompatibility complex (MHC) is the most important region in the vertebrate genome with respect to infection and autoimmunity, and is crucial in adaptive and innate immunity. Decades of biomedical research have revealed many MHC genes that are duplicated, polymorphic and associated with more diseases than any other region of the human genome. The recent completion of several large-scale studies offers the opportunity to assimilate the latest data into an integrated gene map of the extended human MHC. Here, we present this map and review its content in relation to paralogy, polymorphism, immune function and disease.
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            Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins.

            Twin concordance data for rheumatoid arthritis (RA) on their own provide only limited insight into the relative genetic and environmental contribution to the disease. We applied quantitative genetic methods to assess the heritability of RA and to examine for evidence of differences in the genetic contribution according to sex, age, and clinical disease characteristics. Data were analyzed from 2 previously published nationwide studies of twins with RA conducted in Finland and the United Kingdom. Heritability was assessed by variance components analysis. Differences in the genetic contribution by sex, age, age at disease onset, and clinical characteristics were examined by stratification. The power of the twin study design to detect these differences was examined through simulation. The heritability of RA was 65% (95% confidence interval [95% CI] 50-77) in the Finnish data and 53% (95% CI 40-65) in the UK data. There was no significant difference in the strength of the genetic contribution according to sex, age, age at onset, or disease severity subgroup. Both study designs had power to detect a contribution of at least 40% from the common family environment, and a difference in the genetic contribution of at least 50% between subgroups. Genetic factors have a substantial contribution to RA in the population, accounting for approximately 60% of the variation in liability to disease. Although tempered by power considerations, there is no evidence in these twin data that the overall genetic contribution to RA differs by sex, age, age at disease onset, and disease severity.
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              The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis.

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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Journal
                rbr
                Revista Brasileira de Reumatologia
                Rev. Bras. Reumatol.
                Sociedade Brasileira de Reumatologia
                1809-4570
                April 2016
                : 56
                : 2
                : 171-177
                Affiliations
                [1 ] Universidad Autónoma de Chile Chile
                [2 ] Hospital Universitario Central de Asturias Spain
                Article
                S0482-50042016000200171
                10.1016/j.rbre.2015.10.004
                27267531
                7d11cd91-2f93-4a92-8b7b-9ed842b7e2b1

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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                SciELO Brazil

                Self URI (journal page): http://www.scielo.br/scielo.php?script=sci_serial&pid=0482-5004&lng=en
                Categories
                RHEUMATOLOGY

                Rheumatology
                Artrite reumatoide,HLA,Estudo de associação genômica ampla,Susceptibilidade genética,Polimorfismo de nucleotídeo único,Rheumatoid arthritis,Genome wide association studies,Genetic susceptibility,Single nucleotide polymorphism

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