Genetic Studies of Immune-Related Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 20 May 2025 | Viewed by 4743
Special Issue Editor
Special Issue Information
Dear Colleagues,
Abnormal functioning of the immune system, which is a complex network of tissues, cells and molecules that has evolved to protect the body from microbial pathogens, harmful cells and substances, can lead to tissue injury and the development of immune-mediated diseases, a heterogeneous group of conditions of unclear etiology affecting about 10% of the world population. They include highly disabling, complex disorders like autoimmune, allergic and inflammatory diseases, whose incidence and prevalence are on the rise, especially in Western countries, just like rare primary immune deficiencies.
In the last decade, hundreds of genetic variants associated with the risk of developing different immune-mediated diseases, as well as those regulating individual differences in the levels of immune cells and molecules, have been identified through SNP-based and sequencing-based genome-wide association studies (GWASs). These studies have allowed scientists to better define the genetic architecture of complex immune traits and diseases and to estimate the polygenic risk scores of developing a specific disease. Nonetheless, inferring casual variants and mechanisms underlying these associations remains challenging and limits the translation of GWAS findings into new therapeutics for these chronic diseases.
In this Special Issue, we welcome research and review articles that improve our understanding of the etiology of immune-related diseases, including functional follow-up studies, and address the current and future challenges in the field, particularly those involved in linking GWAS association results to biological function. Since IJMS is a journal of molecular science, pure clinical studies will not suitable, but clinical submissions with biomolecular experiments are welcomed.
Dr. Silvia Naitza
Guest Editor
Manuscript Submission Information
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Keywords
- autoimmune diseases
- inflammatory diseases
- asthma and allergies
- GWAS studies
- GWAS meta-analysis
- eQTLs and pQTLs analysis
- endophenotypes
- immune cell traits
- single cell transcriptomics
- functional genomics
- fine mapping
- casual variant
- drug target
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