Genetic Studies of Immune-Related Diseases

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

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• 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