Advances in genetics toward identifying pathogenic cell states of rheumatoid arthritis

Amariuta, Tiffany; Luo, Yang; Knevel, Rachel; Okada, Yukinori; Raychaudhuri, Soumya

doi:10.1111/imr.12827

Cited by 28 publications

(17 citation statements)

References 79 publications

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“…The studies showed that the development of RA is based on heredity and epigenetics, but environmental factors also play an important role, such as cigarette smoke and dust contact, especially the microbiome representing the "internal" environment ( Figure 1) (Amariuta et al, 2020;Scherer et al, 2020). And the susceptibility of RA is related to environmental factors, such as smoking and infection, which may be mediated by gut microbiome (Klareskog et al, 2006;Luckey et al, 2013).…”

Section: Gut Microbiome In the Etiology Of Rheumatoid Arthritismentioning

confidence: 99%

Regulating Gut Microbiome: Therapeutic Strategy for Rheumatoid Arthritis During Pregnancy and Lactation

Yao¹,

Cai²,

Fei³

et al. 2020

Front. Pharmacol.

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Rheumatoid arthritis (RA) is an autoimmune disease characterized by synovial inflammation and bone destruction. Microbial infection is considered to be the most important inducement of RA. The pregnancy planning of women in childbearing age is seriously affected by the disease activity of RA. Gut microbiome, related to immunity and inflammatory response of the host. At present, emerging evidence suggested there are significant differences in the diversity and abundance of gut microbiome during pregnancy and lactation, which may be associated with the fluctuation of RA disease activity. Based on these research foundations, we pioneer the idea of regulating gut microbiome for the treatment of RA during pregnancy and lactation. In this review, we mainly introduce the potential treatment strategies for controlling the disease activity of RA based on gut microbiome during pregnancy and lactation. Besides, we also briefly generalize the effects of conventional anti-rheumatic drugs on gut microbiome, the effects of metabolic changes during pregnancy on gut microbiome, alteration of gut microbiome during pregnancy and lactation, and the effects of anti-rheumatic drugs commonly used during pregnancy and lactation on gut microbiome. These will provide a clear knowledge framework for researchers in immune-related diseases during pregnancy. Regulating gut microbiome may be a potential and effective treatment to control the disease activity of RA during pregnancy and lactation.

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Section: Gut Microbiome In the Etiology Of Rheumatoid Arthritismentioning

confidence: 99%

Regulating Gut Microbiome: Therapeutic Strategy for Rheumatoid Arthritis During Pregnancy and Lactation

Yao¹,

Cai²,

Fei³

et al. 2020

Front. Pharmacol.

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“…To date, over 100 genetic loci have been associated with RA [ 28 ]. The pathogenesis of RA has a polygenic basis, where 50% of disease risk is thought to be genetic and one-third of this risk is attributable to the HLA region [ 17 ].…”

Section: Genetics In Rheumatoid Arthritismentioning

confidence: 99%

“…Thus, genetic variation can also be explained by RA risk alleles in non-HLA loci. In early GWAS, peptidyl arginine deiminase 4 ( PADI4 ), protein tyrosine phosphatase non-receptor type 22 ( PTPN22 ), and cytotoxic T-lymphocyte-associated protein 4 ( CTLA4 ) genes were identified as initial non-HLA RA risk loci [ 29 , 30 ] ( Figure 2 ), with these findings being subsequently replicated in multiple cohorts in the following years [ 28 ]. There has been an exponential increase in the number of genes associated with RA since 2007, as several collaborative efforts have led to the development of international consortia [ 31 ].…”

Section: Genetics In Rheumatoid Arthritismentioning

confidence: 99%

“…Among the coding variants showing a strong association with RA risk are PTPN22 , interleukin-6 receptor ( IL6R ), and tyrosine kinase 2 ( TYK2 ) [ 32 ]. However, around 80% of the loci are located in non-coding regions of the genome [ 28 ], including alleles found to lie either in intronic regions or in proximal 5′ or 3′ intergenic regions of immune-mediating genes, notably interferon regulatory factor 5 ( IRF5 ) and 8 ( IRF8 ), runt-related transcription factor 1 ( RUNX1 ), TNF alpha induced protein 3 ( TNFAIP3 ), signal transducer and activator of transcription 4 ( STAT4 ), chemokine receptor 6 ( CCR6 ), and CTLA4 [ 28 ].…”

Section: Genetics In Rheumatoid Arthritismentioning

confidence: 99%

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Latin American Genes: The Great Forgotten in Rheumatoid Arthritis

Díaz‐Peña

Quiñones

Castro‐Santos

et al. 2020

JPM

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The successful implementation of personalized medicine will rely on the integration of information obtained at the level of populations with the specific biological, genetic, and clinical characteristics of an individual. However, because genome-wide association studies tend to focus on populations of European descent, there is a wide gap to bridge between Caucasian and non-Caucasian populations before personalized medicine can be fully implemented, and rheumatoid arthritis (RA) is not an exception. In this review, we discuss advances in our understanding of genetic determinants of RA risk among global populations, with a focus on the Latin American population. Geographically restricted genetic diversity may have important implications for health and disease that will remain unknown until genetic association studies have been extended to include Latin American and other currently under-represented ancestries. The next few years will witness many breakthroughs in personalized medicine, including applications for common diseases and risk stratification instruments for targeted prevention/intervention strategies. Not all of these applications may be extrapolated from the Caucasian experience to Latin American or other under-represented populations.

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“…It is recognized that gene polymorphisms have been involved in these disorders pathogenesis (3,4). To date, at least 88 genomic regions have been identified associated with SLE susceptibility, such as TNFSF4, STAT4, and TNIP1, and about 106 susceptible genes were reported to associate with RA, such as CD28, IL3-CSF2, NFKBIE (5,6). However, finding out more risk polymorphisms for RA and SLE will be helpful to better elucidate the pathogenesis of these diseases.…”

Section: Introductionmentioning

confidence: 99%

Association of CD40 Gene Polymorphisms With Systemic Lupus Erythematosus and Rheumatoid Arthritis in a Chinese Han Population

Huang

et al. 2021

Front. Immunol.

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Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are complex autoimmune diseases. CD40 participates in inflammatory response, and promotes fibroblast proliferation, leading to occurrence and progression of SLE, RA. This study explores CD40 gene polymorphisms in SLE and RA patients from a Chinese Han population. Two hundred SLE patients, 340 RA patients, and 900 healthy controls were enrolled. Genomic DNA was extracted from peripheral blood, and six polymorphisms of CD40 gene (rs3765456, rs1569723, rs73115010, rs13040307, rs1883832, and rs4810485) were detected by KASP method. Frequencies of rs1569723 genotypes AA, AC, AA+AC were significantly higher in RA patients as compared to those in healthy controls (P = 0.049, P = 0.024, P = 0.022). Frequencies of genotypes CT, CC+CT of rs1883832, and GT, GG+GT of rs4810485 were significantly higher in RA patients as compared to those in healthy controls (P = 0.012, P = 0.018, P = 0.009, P = 0.015). RA patients carrying rs13040307 C allele and rs73115010 T allele showed increased number of swollen joints. Moreover, frequency of allele T of rs13040307 was lower in SLE patients with positive anti-dsDNA and hematuria as compared to that in patients without these parameters (P = 0.038, P = 0.045). There were increased frequencies of genotype TT, allele T for rs13040307 and lower frequencies of genotype TT, allele T for rs73115010 in lupus patients with myositis (all P<0.05). Interestingly, frequencies of rs1569723 A allele, rs4810485 T allele were higher in SLE patients with myositis, and frequencies of rs3765456 A allele, rs1883832 T allele were lower in SLE patients with myositis (All P<0.05). In conclusion, CD40 gene polymorphisms may associate with susceptibility to SLE and RA.

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Advances in genetics toward identifying pathogenic cell states of rheumatoid arthritis

Cited by 28 publications

References 79 publications

Regulating Gut Microbiome: Therapeutic Strategy for Rheumatoid Arthritis During Pregnancy and Lactation

Regulating Gut Microbiome: Therapeutic Strategy for Rheumatoid Arthritis During Pregnancy and Lactation

Latin American Genes: The Great Forgotten in Rheumatoid Arthritis

Association of CD40 Gene Polymorphisms With Systemic Lupus Erythematosus and Rheumatoid Arthritis in a Chinese Han Population

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