Genetic markers and clinical relevance in rheumatoid arthritis

Guo, Jianping; Li, Zhanguo

doi:10.1111/1756-185x.12812

Int J of Rheum Dis

2015

DOI: 10.1111/1756-185x.12812

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Genetic markers and clinical relevance in rheumatoid arthritis

Jianping Guo

Zhanguo Li

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Cited by 2 publications

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“…SLE can affect different organs and present reactive autoantibodies, whereas RA is characterized by damage to the synovial membrane (Ardoin & Pisetsky, 2008;Scott et al, 2010). Genetic, hormonal, infectious and environmental factors have been related to SLE and RA; however, the aetiology of these diseases is not fully understood (Guo & Li, 2016;Tsokos, 2011). The prevalence of RA is estimated at about 0.5%-1% of the world population, while the global prevalence of SLE can vary considerably in different populations (3.2-517.5/100,000 individuals), depending on ethnic and geographical diversity (Carter et al, 2016;Minichiello et al, 2016).…”

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confidence: 99%

CIITA gene polymorphism (rs3087456) in systemic lupus erythematosus and rheumatoid arthritis: A population‐based cohort study

Lima¹,

Silva

Nascimento

et al. 2021

Int J Immunogenetics

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Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are influenced by genetic variants in immune system HLA genes. The Class II Major Histocompatibility Complex Transactivator (CIITA) is an important co-activator of the HLA transcriptional complex; the single nucleotide variant (SNV) rs3087456 localized in the gene promoter region (−168 A/G) has been reported as able to modify its transcription level. In our study, we assessed CIITA rs3087456 SNV in 1,044 Brazilians from two Brazilian regions (Northeast and South) to verify the association with susceptibility and clinical manifestations of (SLE) and (RA) using TaqMan SNP Genotyping Assays System. We observed a protection for a recessive model (GG x AA+AG) for RA susceptibility and increased risk for erosion development in AG genotype patients. No significant association was observed for SLE susceptibility; however, we observed significant increased risk for Class IV and V nephritis development in G allele and GG genotype patients. In conclusion, we showed the contribution of CIITA rs3087456 to SLE or RA clinical features and RA susceptibility in the studied populations.

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confidence: 99%

CIITA gene polymorphism (rs3087456) in systemic lupus erythematosus and rheumatoid arthritis: A population‐based cohort study

Lima¹,

Silva

Nascimento

et al. 2021

Int J Immunogenetics

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Interleukin (IL)-23 Receptor, IL-17A and IL-17F Gene Polymorphisms in Brazilian Patients with Rheumatoid Arthritis

Silva

Angelo

Rushansky

et al. 2017

Arch. Immunol. Ther. Exp.

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Rheumatoid arthritis (RA) is a progressive, autoimmune disease for which the previous studies have shown that some functional polymorphisms can influence its etiology. Knowing this, the aim of this study was to investigate the association of +2199 A/C IL-23R (rs10889677), -197 G/A IL-17A (rs2275913), and +7488 A/G IL-17F (rs763780) gene polymorphisms with RA susceptibility and clinical features in a Brazilian population. A total of 127 RA patients and 134 healthy controls were recruited for the analyses of polymorphic variants. Genotyping was performed using RFLP-PCR. Logistic regression was used to analyze the genotype distribution of the polymorphisms. Individuals carrying the homozygous CC genotype for the IL-23R polymorphism seem to be at lower risk for RA development (OR 0.22; p = 0.004), as well as those carrying the variant C allele (OR 0.56; p = 0.002). For the -197 G/A IL-17A polymorphism, the wild-type genotype (GG) was significantly associated with a 3.18-fold (OR 3.18; p = 0.033) increased risk for RA. In relation to the +7488 A/G IL-17F polymorphism, no significant difference was found between RA cases and control subjects (p > 0.05). Moreover, when investigating the relationship between polymorphisms and clinical features, no evidence of an association was found. Our findings suggest that the variants +2199 A/C IL-23R and -197 G/A IL-17A could contribute to RA development in the studied population. However, larger studies are needed to fully understand this genetic predisposition.

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Genetic markers and clinical relevance in rheumatoid arthritis

Cited by 2 publications

References 41 publications

CIITA gene polymorphism (rs3087456) in systemic lupus erythematosus and rheumatoid arthritis: A population‐based cohort study

CIITA gene polymorphism (rs3087456) in systemic lupus erythematosus and rheumatoid arthritis: A population‐based cohort study

Interleukin (IL)-23 Receptor, IL-17A and IL-17F Gene Polymorphisms in Brazilian Patients with Rheumatoid Arthritis

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