Ankylosing spondylitis (AS), Spondyloarthropathies’ (SpA) prototype, is a common, highly heritable inflammatory arthritis characterized by enthesitis of the spine and sacroiliac joints. AS aetiology involves a combination of genetic, environmental, and immunological factors. Human leukocyte antigen (HLA)-B27 is the most well-known genetic factor associated with AS, but it does not fully explain the disease's heritability, as there are > than 100 genomic loci incriminated in AS. Expression Quantitative Trait Loci (eQTLs) are genomic loci that explain variations in gene expression levels between individuals, and it is a powerful tool to link disease-associated genetic variants to putative target genes. eQTL studies might reveal specific activation and cell type-dependent effects of disease-risk variants thus providing critical insights into the genetic mechanisms of a specific disease. This might play a significant role also in explaining the immunological imbalance and the altered genetic architecture seen in AS.
The purpose of eQTL analysis is to identify genetic variants that influence the expression levels of genes. Several eQTLs associated with AS have been identified in immune-related genes, such as interleukin-23 receptor (IL23R) and endoplasmic reticulum aminopeptidase 1 (ERAP1), which altered the immune function and response in AS patients.
Diseases involving the immune system are heritable, but it is unknown how genetic variation contributes to different diseases. EQTLs have been successfully used to prioritize SNPs genotyped in GWAS (genome-wide association studies) to identify relevant pathways for complex diseases. These discoveries helped to explain how genetic variations can lead to dysregulated immune responses and chronic inflammation.
The integration of eQTL data with genome, epigenome and transcriptome-wide association study (GWAS, EWAS and TWAS respectively) is crucial for the identification of genes and pathways for drug target prioritization and thus to satisfy this unmet need in SpA.
The goal of this Research Topic is to provide a more precise understanding of eQTL research in SpA, bringing together researchers in the community to present the cutting-edge advancement in this area with an eye with future perspective. To maximize its benefit to the reader community, the scope of this Research Topic is to shed the light on the role and applications of eQTLs in the context of SpA especially in the form of original articles, theories, opinion, methods, areas of impact, and historical review on the following topics (not limited to):
1. Biomarker Identification: eQTLs can serve as biomarkers for early diagnosis and disease susceptibility;
2. Therapeutic Targets: Identifying eQTLs might help in discovering new therapeutic targets by elucidating the genetic mechanisms of inflammation and immune regulation, with an eye on tissue specificity;
3. Personalized Medicine: Knowledge of specific eQTLs can inform personalized treatment strategies, improving patient outcomes by tailoring therapies to individual genetic profiles.
4. Methodological approach: Novel applications for discerning the tissue- or population-specificity of eQTLs, including perturbation/response QTLs
The exploration of eQTLs in the context of SpA offers valuable insights into the genetic underpinnings of these disorders. By bridging the gap between genetic variants and gene expression, eQTL serves as an important strategy to tackle human complex diseases such as SpA.
Keywords:
Ankylosing Spondylitis, Spondyloarthropathies, eQTLs, genetics, target prioritization, therapy
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.
Ankylosing spondylitis (AS), Spondyloarthropathies’ (SpA) prototype, is a common, highly heritable inflammatory arthritis characterized by enthesitis of the spine and sacroiliac joints. AS aetiology involves a combination of genetic, environmental, and immunological factors. Human leukocyte antigen (HLA)-B27 is the most well-known genetic factor associated with AS, but it does not fully explain the disease's heritability, as there are > than 100 genomic loci incriminated in AS. Expression Quantitative Trait Loci (eQTLs) are genomic loci that explain variations in gene expression levels between individuals, and it is a powerful tool to link disease-associated genetic variants to putative target genes. eQTL studies might reveal specific activation and cell type-dependent effects of disease-risk variants thus providing critical insights into the genetic mechanisms of a specific disease. This might play a significant role also in explaining the immunological imbalance and the altered genetic architecture seen in AS.
The purpose of eQTL analysis is to identify genetic variants that influence the expression levels of genes. Several eQTLs associated with AS have been identified in immune-related genes, such as interleukin-23 receptor (IL23R) and endoplasmic reticulum aminopeptidase 1 (ERAP1), which altered the immune function and response in AS patients.
Diseases involving the immune system are heritable, but it is unknown how genetic variation contributes to different diseases. EQTLs have been successfully used to prioritize SNPs genotyped in GWAS (genome-wide association studies) to identify relevant pathways for complex diseases. These discoveries helped to explain how genetic variations can lead to dysregulated immune responses and chronic inflammation.
The integration of eQTL data with genome, epigenome and transcriptome-wide association study (GWAS, EWAS and TWAS respectively) is crucial for the identification of genes and pathways for drug target prioritization and thus to satisfy this unmet need in SpA.
The goal of this Research Topic is to provide a more precise understanding of eQTL research in SpA, bringing together researchers in the community to present the cutting-edge advancement in this area with an eye with future perspective. To maximize its benefit to the reader community, the scope of this Research Topic is to shed the light on the role and applications of eQTLs in the context of SpA especially in the form of original articles, theories, opinion, methods, areas of impact, and historical review on the following topics (not limited to):
1. Biomarker Identification: eQTLs can serve as biomarkers for early diagnosis and disease susceptibility;
2. Therapeutic Targets: Identifying eQTLs might help in discovering new therapeutic targets by elucidating the genetic mechanisms of inflammation and immune regulation, with an eye on tissue specificity;
3. Personalized Medicine: Knowledge of specific eQTLs can inform personalized treatment strategies, improving patient outcomes by tailoring therapies to individual genetic profiles.
4. Methodological approach: Novel applications for discerning the tissue- or population-specificity of eQTLs, including perturbation/response QTLs
The exploration of eQTLs in the context of SpA offers valuable insights into the genetic underpinnings of these disorders. By bridging the gap between genetic variants and gene expression, eQTL serves as an important strategy to tackle human complex diseases such as SpA.
Keywords:
Ankylosing Spondylitis, Spondyloarthropathies, eQTLs, genetics, target prioritization, therapy
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.