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Genetics and Biomarkers of Neurodegeneration
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Genetics and Biomarkers of Neurodegeneration

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

Deadline for manuscript submissions: closed (20 May 2022) | Viewed by 2928

Special Issue Editor

Prof. Dr. Hongxing Lei

E-Mail Website
Guest Editor
CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
Interests: bioinformatics; Alzheimer’s disease; biomarker; genetic risk; precision medicine; infectious diseases

Special Issue Information

Dear Colleagues,

Neurodegenerative diseases (NDs) are major public health burdens across the globe. Neurodegenerative diseases mainly consists of Alzheimer’s disease (AD), Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), Huntington’s disease (HD), and a few other devastating diseases. The causes for neurodegeneration are usually complex and may vary from person to person. Genetics certainly play an important role in the pathogenesis of ND. However, other factors such as infection, immune dysregulation, and vascular dysfunction may also be crucial to disease development. Neurodegeneration is irreversible once clinical symptoms are overt. Therefore, early detection and intervention is critical.

This Special Issue, entitled The Genetics and Biomarkers of Neurodegeneration, is intended to provide a platform for a wide range of reviews, research articles, communications, and technical notes related to the genetics or biomarkers of the major NDs. We encourage manuscripts to have a strong precision medicine component that may include, but is not limited to: genetics of NDs in diverse populations, genetic risk scores, personalized risk assessments, blood/urine biomarkers, CSF biomarkers, neuroimaging markers, and personalized intervetion stratigies. Please contact the Guest Editors with questions related to the scope of this Special Issue.

Prof. Dr. Hongxing Lei
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. 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 2600 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.

Keywords

  • Alzheimer’s disease
  • neurodegeneration
  • genetics
  • biomarkers
  • blood
  • CSF
  • neuroimaging
  • precision medicine
  • risk scores
  • therapeutics and prevention

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Published Papers (1 paper)

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Research

10 pages, 786 KiB  
Article
Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis
by Antonio Bruno, Ettore Dolcetti, Federica Azzolini, Alessandro Moscatelli, Stefano Gambardella, Rosangela Ferese, Francesca Romana Rizzo, Luana Gilio, Ennio Iezzi, Giovanni Galifi, Angela Borrelli, Fabio Buttari, Roberto Furlan, Annamaria Finardi, Francesca De Vito, Alessandra Musella, Livia Guadalupi, Georgia Mandolesi, Diego Centonze and Mario Stampanoni Bassi
Genes 2022, 13(5), 897; https://doi.org/10.3390/genes13050897 - 17 May 2022
Cited by 7 | Viewed by 2425
Abstract
(1) Background: The clinical course of multiple sclerosis (MS) is critically influenced by the expression of different pro-inflammatory and anti-inflammatory cytokines. Interleukin 6 (IL-6) represents a major inflammatory molecule previously associated with exacerbated disease activity in relapsing remitting MS (RR-MS); however, the role [...] Read more.
(1) Background: The clinical course of multiple sclerosis (MS) is critically influenced by the expression of different pro-inflammatory and anti-inflammatory cytokines. Interleukin 6 (IL-6) represents a major inflammatory molecule previously associated with exacerbated disease activity in relapsing remitting MS (RR-MS); however, the role of single-nucleotide polymorphisms (SNPs) in the IL-6 gene has not been fully elucidated in MS. (2) Methods: We explored in a cohort of 171 RR-MS patients, at the time of diagnosis, the associations between four IL-6 SNPs (rs1818879, rs1554606, rs1800797, and rs1474347), CSF inflammation, and clinical presentation. (3) Results: Using principal component analysis and logistic regression analysis we identified an association between rs1818879, radiological activity, and a set of cytokines, including the IL-1β, IL-9, IL-10, and IL-13. No significant associations were found between other SNPs and clinical or inflammatory parameters. (4) Conclusions: The association between the rs1818879 polymorphism and subclinical neuroinflammatory activity suggests that interindividual differences in the IL-6 gene might influence the immune activation profile in MS. Full article
(This article belongs to the Special Issue Genetics and Biomarkers of Neurodegeneration)
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