Study on Gene Identification and Gene Function in Multiple Sclerosis
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: closed (31 May 2021) | Viewed by 5601
Special Issue Editors
Interests: Statistical Genetics; Multiple Sclerosis; causal inference; mendelian randomization; statistical genetics
Special Issue Information
Dear Colleagues,
Multiple sclerosis is a complex autoimmune disease caused by a combination of genetic and environmental factors. Genome-wide association studies (GWASs) have identified hundreds of genetic variants that are associated with MS. However, the vast majority of these disease-associated variants reside in non-coding regions and have unknown functions. They can influence the level of gene expression and of the protein through impacting the underlying regulatory mechanisms. Indeed, in recent years, expression quantitative trait loci (eQTL) mapping studies have successfully identified many cis- and trans-acting genetic variants that are associated with gene expression levels in different tissues and the levels of proteins, which are collected in publicly available databases.
The application of statistical approaches such as Mendelian randomization by exploiting these eQTL allows exploring the causal relationship between a molecular phenotype, such as the level of a given protein or the expression of a putative gene, and the disease, overcoming the problem of potential confounders affecting observational studies. Hence, this approach allows exploring the functional implications of the identified statistically associated genetic variants in MS susceptibility and facilitates the identification of the biological pathways underlying the disease’s etiology.
Furthermore, the study of epigenetic mechanisms such as DNA methylation, histone modification and microRNA-mediated gene regulation influencing the switching on and off of a gene is of paramount importance.
In this Special Issue, we aim at collecting contributions in terms of review papers and original articles focused on the identification of genes causally related to MS and on functional studies of putative causal genes and their interaction with the environment. Methodological papers within this framework are also welcome.
Subtopics:
Mendelian randomization;
Colocalization;
Functional studies;
Epigenetics studies;
Statistical methods.
Prof. Dr. Luisa Bernardinelli
Prof. Dr. Carlo Berzuini
Guest Editor
Manuscript Submission Information
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Keywords
- Multiple sclerosis
- causal inference
- Mendelian randomization
- functional studies
- epigenetics
- colocalization
