Research Topic

Genetic Studies on Spondyloarthritis: from Disease Predictors to Therapeutic Targets

About this Research Topic

Seronegative spondyloarthritis (SpA) are a group of chronic inflammatory diseases mainly involving the spine. They can also extend to peripheral joints of the upper and lower limbs. In addition, they are often associated with cutaneous (psoriasis), ocular (uveitis) and gastrointestinal manifestations (inflammatory bowel diseases, IBD). The prevalence of SpA in the Western adult population is 0.5%. Depending on clinical and radiological signature, they have been classified as: Ankylosing Spondylitis (AS), Psoriatic Arthritis, Arthritis associated with IBD, Reactive Spondyloenthexarthritis (e.g. Reiter's syndrome), Sapho syndrome or undifferentiated forms. The etiology of SpA is multifactorial probably sharing a pathogenetic mechanism, given the frequent association with a genetic element, the HLA-B27 family of alleles. However, in recent years, genome-wide association studies (GWAS) have uncovered numerous other genetic factors of susceptibility, highlighting several major and specific pathways involved in SpA pathogenesis.

In recent years, a growing body of evidence has indicated an aberrant activation and dysregulation of immune system as a common feature of SpA. Genome-wide association studies (GWAS) have identified several polymorphisms associated with each different condition, allowing to predict the individual susceptibility to each specific form of spondyloarthritis. However, the goal of the molecular medicine is to maximize treatment efficacy either by developing more targeted drugs directed against “altered” biological pathways, or by using existing drugs, through an a priori selection of those patients able to respond to specific treatments. In this contest, further genetic studies in larger cohorts are crucial to obtain information on the missing heritability of these disorders and about functional cells dysfunctions closely related to the specific pathogenesis. A substantial effort is needed to move from association signals to the understanding of the functional implication of these polymorphisms, each providing a moderate biological effect. In this respect, integration of genomic data with other “omic” information, such as epigenomic and transcriptomic data, has become an useful approach to unravel the mechanisms underlying each one of these complex diseases.

The scope of this Research Topic is to define the current advances in understanding the most important candidate genes and pathways involved in SpA pathogenesis. The goal is to provide an update related to the molecular markers to be taken into consideration for the classification of the SpA, both for an early diagnosis as well as for designing novel therapeutic approaches effective in certain genetic-functional contexts. We welcome Original research, Reviews, Mini-Reviews, Hypothesis and Theory and Perspective articles covering the following topics:

• Gene expression profiling as a comprehensive approach to elucidate the determinants of biological and clinical phenotypes
• Genetic and epigenetic mechanisms that promote the development of SpA
• Polymorphisms in cytokine axis involved in SpA pathogenesis
• Role of immune cells in initiating and/or perpetuating tissue specific inflammation in SpA
• Role of environmental factors in modulating immunity in SpA in a genotype dependent manner
• Studies aimed to link genetic variants to cell dysfunction and pathogenesis


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Seronegative spondyloarthritis (SpA) are a group of chronic inflammatory diseases mainly involving the spine. They can also extend to peripheral joints of the upper and lower limbs. In addition, they are often associated with cutaneous (psoriasis), ocular (uveitis) and gastrointestinal manifestations (inflammatory bowel diseases, IBD). The prevalence of SpA in the Western adult population is 0.5%. Depending on clinical and radiological signature, they have been classified as: Ankylosing Spondylitis (AS), Psoriatic Arthritis, Arthritis associated with IBD, Reactive Spondyloenthexarthritis (e.g. Reiter's syndrome), Sapho syndrome or undifferentiated forms. The etiology of SpA is multifactorial probably sharing a pathogenetic mechanism, given the frequent association with a genetic element, the HLA-B27 family of alleles. However, in recent years, genome-wide association studies (GWAS) have uncovered numerous other genetic factors of susceptibility, highlighting several major and specific pathways involved in SpA pathogenesis.

In recent years, a growing body of evidence has indicated an aberrant activation and dysregulation of immune system as a common feature of SpA. Genome-wide association studies (GWAS) have identified several polymorphisms associated with each different condition, allowing to predict the individual susceptibility to each specific form of spondyloarthritis. However, the goal of the molecular medicine is to maximize treatment efficacy either by developing more targeted drugs directed against “altered” biological pathways, or by using existing drugs, through an a priori selection of those patients able to respond to specific treatments. In this contest, further genetic studies in larger cohorts are crucial to obtain information on the missing heritability of these disorders and about functional cells dysfunctions closely related to the specific pathogenesis. A substantial effort is needed to move from association signals to the understanding of the functional implication of these polymorphisms, each providing a moderate biological effect. In this respect, integration of genomic data with other “omic” information, such as epigenomic and transcriptomic data, has become an useful approach to unravel the mechanisms underlying each one of these complex diseases.

The scope of this Research Topic is to define the current advances in understanding the most important candidate genes and pathways involved in SpA pathogenesis. The goal is to provide an update related to the molecular markers to be taken into consideration for the classification of the SpA, both for an early diagnosis as well as for designing novel therapeutic approaches effective in certain genetic-functional contexts. We welcome Original research, Reviews, Mini-Reviews, Hypothesis and Theory and Perspective articles covering the following topics:

• Gene expression profiling as a comprehensive approach to elucidate the determinants of biological and clinical phenotypes
• Genetic and epigenetic mechanisms that promote the development of SpA
• Polymorphisms in cytokine axis involved in SpA pathogenesis
• Role of immune cells in initiating and/or perpetuating tissue specific inflammation in SpA
• Role of environmental factors in modulating immunity in SpA in a genotype dependent manner
• Studies aimed to link genetic variants to cell dysfunction and pathogenesis


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

19 July 2020 Abstract
22 November 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

19 July 2020 Abstract
22 November 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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