Special Issue "Genetics of Alzheimer's Disease: The Role of Polygenic and Epistasis Components"

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

Deadline for manuscript submissions: 15 October 2021.

Special Issue Editors

Prof. Dr. Mariarosa Anna Beatrice Melone
E-Mail Website
Guest Editor
1. Department of Medical and Surgical Advanced Sciences Second Division of Neurology, Center for Rare Neurological and Neuromuscular Diseases & Inter University Center for Research in Neurosciences, University of Campania Luigi Vanvitelli, 80131 Naples, Italy
2. Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA 19122, USA
Interests: clinical neurology; neuropathology and experimental neurobiology; rare neurological and neuromuscular diseases; neurogenetics; nutraceuticals; nanotechnologies and functional foods; neurodegenerative disorders; autophagy
Special Issues and Collections in MDPI journals
Dr. Giuseppe Tosto
E-Mail Website
Co-Guest Editor
Taub Institute and the Gertrude Sergievsky Center, Columbia University, New York, NY, USA
Interests: Alzheimer’s disease; genetics; admixture mapping; omics

Special Issue Information

Dear Colleagues,

Alzheimer’s disease (AD) is the most common neurodegenerative disease, but its causes remain largely unclear. Genetic risk variants identified so far show either small effect sizes or with larger effects but are extremely rare in frequency among the population. AD’s missing heritability remains therefore extensive, which has been attributed, at least partially, to mechanisms not currently investigated by traditional “single-locus” approaches, i.e., testing a single genetic variant and/or gene. In this Special Issue, we will focus on “multi-locus” approaches, i.e., the role of polygenic risk scores (PRS, i.e., the summation of multiple risk loci across the genome) and epistasis (i.e., interaction between genetic loci) in the context of AD and its endophenotypes.

Prof. Dr. Mariarosa Anna Beatrice Melone
Dr. Giuseppe Tosto
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 2000 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.


  • Alzheimer’s disease
  • Polygenic risk score
  • Epistasis
  • Genetics

Published Papers

This special issue is now open for submission.
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