Special Issue "Beyond GWAS: Deciphering Multiple Sclerosis through the Multiple Facets of Genetics"

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 (30 September 2019).

Special Issue Editors

Prof. Sandra D´Alfonso
E-Mail Website
Guest Editor
Department of Health Sciences, Azienda Ospedaliera-Universitaria Maggiore della Carità, Novera, Italy
Interests: Medical genetics; Multiple sclerosis; Systemic lupus erythematosus; Amyotrophic Lateral Sclerosis
Dr. Nadia Barizzone
E-Mail Website
Guest Editor
Department of Health Sciences, Universita degli Studi del Piemonte Orientale Amedeo Avogadro, Novara, Italy
Interests: medical genetics; multiple sclerosis; systemic lupus erythematosus; biostatistics, bioinformatics

Special Issue Information

Dear Colleagues,

Multiple sclerosis (MS) is a complex autoimmune disorder of the central nervous system. During the past decade, our knowledge about the genomics of complex diseases and particularly of multiple sclerosis has greatly improved thanks to the application of genome-wide association studies to large international datasets, which led to the identification of more than 200 susceptibility loci. However, the currently identified regions explain only about 20% of the total heritability of the disease. A recently published study by the International Multiple Sclerosis Genetics Consortium suggests that some of this missing heritability may reside in rare variants.

For most of the associated genetic regions, a fine mapping was never performed, and thus the primarily associated variant has not been identified. Furthermore, few MS risk variants have been functionally characterised.

Like many complex diseases, multiple sclerosis presents a varied clinical picture. Despite the improvements in the knowledge about disease susceptibility variants, so far little is known about the genetic variants involved in disease severity and progression, or about the response to therapy. Uncovering these aspects can open the way leading to personalised medicine.

In this Special Issue about multiple sclerosis genetics, we make an invitation to submit papers that cover the main topics which are still poorly explored in the study of the genetics of multiple sclerosis:

1) fine mapping of MS-associated genomic regions; 2) functional characterization of MS risk variants; 3) the role of rare variants; 4) the search for genetic factors for disease severity, disease progression, or other clinical hallmarks of MS; 5) genes and response to therapy in MS.

Prof. Sandra D´Alfonso
Dr. Nadia Barizzone
Guest Editors

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 papers will be 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. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). 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.


  • Multiple Sclerosis
  • Fine mapping
  • Association
  • Rare variants
  • Disease Prognostic marker
  • Functional studies
  • Pharmacogenetics

Published Papers (1 paper)

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Open AccessCommunication
Fine-Mapping Array Design for Multi-Ethnic Studies of Multiple Sclerosis
Genes 2019, 10(11), 903; https://doi.org/10.3390/genes10110903 - 07 Nov 2019
While approximately 200 autosomal genetic associations outside of the major histocompatibility complex (MHC) have been identified for multiple sclerosis (MS) risk in European populations, causal variants identified at the majority of these associated loci have been much more elusive. We propose that knowledge [...] Read more.
While approximately 200 autosomal genetic associations outside of the major histocompatibility complex (MHC) have been identified for multiple sclerosis (MS) risk in European populations, causal variants identified at the majority of these associated loci have been much more elusive. We propose that knowledge gained from replication efforts in Hispanic and African American populations can be utilized to more efficiently fine-map these risk loci. To this end, we have customized a genotyping array by adding ~20,000 bead types (~17,000 variants) to the base content of the Ilumina Infinium expanded multi-ethnic genotyping array and the Infinium ImmunoArray-24 v2 BeadChip. These custom bead types were chosen to allow for the detection of causal variation (1) in the presence of allelic and locus heterogeneity, by incorporating regulatory and coding variation within 1-Mb of previously identified risk variants and (2) in the absence of allelic and locus heterogeneity by incorporation of variants using linkage disequilibrium criteria, which are based on knowledge of replication status in Hispanic and African American study samples. This array has been designed to maximize fine-mapping potential for currently identified MS susceptibility loci, particularly in multi-ethnic populations. The strategies described here could be additionally informative for fine-mapping of other disease phenotypes. Full article
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