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Contribution of Genetic Factors in Immune-Pathogenesis of Multiple Sclerosis
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Contribution of Genetic Factors in Immune-Pathogenesis of Multiple Sclerosis

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (21 March 2021) | Viewed by 5759

Special Issue Editors

Dr. Georgios Hadjigeorgiou

E-Mail Website
Guest Editor
Medical School, University of Cyprus, Nicosia 1678, Cyprus
Interests: genetic association studies; genetic epidemiological studies; multiple sclerosis; neuroimmunology
Dr. Efthimios Dardiotis

E-Mail Website
Guest Editor
1. Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, 41110 Larissa, Greece
2. School of Medicine, University of Thessaly, 41110 Larissa, Greece
Interests: neurosciences; neurology; neurogenetics; molecular neurology; cognitive impairment; neurorehabilitation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Multiple sclerosis (MS) is the most well-known immune-mediated disorder of the central nervous system, and a significant cause of disability. Its pathogenesis involves numerous procedures, such as myelin sheath destruction and axonal loss, while it can manifest with a plethora of signs and symptoms, with several entities belonging to its wide spectrum.

The factors underlying the manifestation of multiple sclerosis are still elusive. Studies have shown that its prevalence varies greatly between different geographical regions, with a big number of environmental predisposing factors having been identified, such as Epstein–Barr virus infection and cigarette smoking. However, it is has long been known that the genetic component of multiple sclerosis plays a major role as well. Ever since the involvement of the immune system was shown, research around mutations and genes implicated in immune functions has grown exponentially, with the help of candidate gene association and genome-wide association/linkage studies. Indeed, significant association with the disease has been shown for HLA (human leukocyte antigen) class II genes, known to regulate important immune procedures, genes pertaining to T-cell function, highlighting the importance of T-cell immunity in MS, and genes involved in leukocyte trafficking, such as those encoding adhesion molecules.

Multiple Sclerosis is known for its heterogeneity, from age of onset to treatment response. Novel therapies are constantly being tried and administered, in an attempt to slow disease progression, but a large number of patients do not show the expected improvement. Further understanding the interplay between genetics and the immune system will help to shed light on the disease pathogenesis and possibly aid in developing new therapeutic agents, predicting which patients will respond to each treatment, and even reaching an earlier diagnosis. Therefore, it is of paramount importance that more emphasis be put on these immune-related genetic factors. Following this train of thought, this Special Issue of Genes, titled “Contribution of Genetic Factors in Immune-Pathogenesis of Multiple Sclerosis”, calls for relevant original articles and reviews on this very interesting topic.

We look forward to receiving your submissions and enriching the existing scientific knowledge on this promising research field. 

Dr. Georgios Hadjigeorgiou
Dr. Efthimios Dardiotis
Guest Editors

Manuscript Submission Information

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Keywords

  • multiple sclerosis
  • genes
  • polymorphism
  • GWAS
  • immune-related genetic factors
  • autoimmunity
  • innate
  • adaptive immunity

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Published Papers (2 papers)

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9 pages, 234 KiB  
Article
Multiple Sclerosis: Shall We Target CD33?
by Vasileios Siokas, Zisis Tsouris, Athina-Maria Aloizou, Christos Bakirtzis, Ioannis Liampas, Georgios Koutsis, Maria Anagnostouli, Dimitrios P. Bogdanos, Nikolaos Grigoriadis, Georgios M. Hadjigeorgiou and Efthimios Dardiotis
Genes 2020, 11(11), 1334; https://doi.org/10.3390/genes11111334 - 12 Nov 2020
Cited by 10 | Viewed by 2654
Abstract
Background: Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS). Myeloid lineage cells (microglia and macrophages) may participate in the pathogenic mechanisms leading to MS. CD33 is a transmembrane receptor, mainly expressed by myeloid lineage cells. CD33 rs3865444 is [...] Read more.
Background: Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS). Myeloid lineage cells (microglia and macrophages) may participate in the pathogenic mechanisms leading to MS. CD33 is a transmembrane receptor, mainly expressed by myeloid lineage cells. CD33 rs3865444 is a promoter variant previously associated with Alzheimer’s disease, whose role in MS remains obscure. Objective: To assess the role of CD33 rs3865444 in MS risk. Methods: We genotyped 1396 patients with MS and 400 healthy controls for the presence of the CD33 rs3865444 variant. Odds ratios (ORs) with the respective 95% confidence intervals (CIs), were calculated with the SNPStats software, assuming five genetic models (co-dominant, dominant, recessive, over-dominant, and log-additive), with the G allele as the reference allele. The value of 0.05 was set as the threshold for statistical significance. Results: CD33 rs3865444 was associated with MS risk in the dominant (GG vs. GT + TT; OR (95% C.I.) = 0.79 (0.63–0.99), p = 0.041) and the over-dominant (GG + TT vs. GT; OR (95% C.I.) = 0.77 (0.61–0.97), p = 0.03) modes of inheritance. Given that the GG genotype was more frequent and the GT genotype was less frequent in MS patients compared to controls—while the observed frequency of the TT genotype did not differ between the two groups—the observed difference in MS risk may be stemming from either the GG (as a risk factor) or the GT (as a protective factor) genotype of CD33 rs3865444. Conclusions: Our preliminary results suggest a possible contribution of CD33 rs3865444 to MS. Therefore, larger multiethnic studies should be conducted, investigating the role of CD33 rs3865444 in MS. Full article
(This article belongs to the Special Issue Contribution of Genetic Factors in Immune-Pathogenesis of Multiple Sclerosis)

Other

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8 pages, 545 KiB  
Brief Report
Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families
by Tobias Zrzavy, Fritz Leutmezer, Wolfgang Kristoferitsch, Barbara Kornek, Christine Schneider, Paulus Rommer, Thomas Berger and Alexander Zimprich
Genes 2020, 11(9), 988; https://doi.org/10.3390/genes11090988 - 25 Aug 2020
Cited by 6 | Viewed by 2441
Abstract
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the Central Nervous System (CNS). Currently, it is estimated that 30–40% of the phenotypic variability of MS can be explained by genetic factors. However, low susceptibility variants identified through Genome Wide Association Study (GWAS) [...] Read more.
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the Central Nervous System (CNS). Currently, it is estimated that 30–40% of the phenotypic variability of MS can be explained by genetic factors. However, low susceptibility variants identified through Genome Wide Association Study (GWAS) were calculated to explain about 50% of the heritability. Whether familial high-risk variants also contribute to heritability is a subject of controversy. In the last few years, several familial variants have been nominated, but none of them have been unequivocally confirmed. One reason for this may be that genetic heterogeneity and reduced penetrance are hindering detection. Sequencing a large number of MS families is needed to answer this question. In this study, we performed whole exome sequencing in four multi-case families, of which at least three affected individuals per family were analyzed. We identified a total of 138 rare variants segregating with disease in each of the families. Although no single variant showed convincing evidence for disease causation, some genes seemed particularly interesting based on their biological function. The main aim of this study was to provide a complete list of all rare segregating variants to provide the possibility for other researchers to cross-check familial candidate genes in an unbiased manner. Full article
(This article belongs to the Special Issue Contribution of Genetic Factors in Immune-Pathogenesis of Multiple Sclerosis)
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