Genetic Epidemiology of Human Complex Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (25 September 2023) | Viewed by 2504
Special Issue Editors
Interests: (epi)genetic susceptibility to complex diseases; immunogenetics; nutrigenetics; pharmacogenetics
Interests: (epi)genetic susceptibility to cancer; infectious and neurodegenerative diseases; non-coding RNAS
Interests: (epi)genetic susceptibility to autoimmune diseases; complement system; immunogenetics
Special Issue Information
Dear Colleagues,
Each human population possesses a unique set of (epi)genetic variants that interact with their specific environmental context. Their frequencies are the result of the evolutionary factors that accompany specific demographic histories, causing sometimes striking epidemiological differences. Unlike disease-associated transgenerational epigenetic variants, which are presumed to exist but are difficult to identify, a large number of disease-associated genetic variants are common and have already been cataloged, especially in populations of European and Asian origin. These advances were mainly achieved through large-scale genotyping and next-generation sequencing techniques using large sample sizes. However, polygenic risk scores do not explain much of the heritability of disease risk. Few of the rare variants with the greatest impact have been identified. The investigation of genetically isolated populations represents a viable alternative because of the historical founding effects that caused some initially very rare variants to drift to respectable frequencies. In addition, persistent epigenetic variants may be more easily identified in populations that share a culture and lifestyle over many generations.
Our goal is to publish papers describing the role of (epi)genetic architecture in susceptibility to complex diseases in different populations to establish susceptibility profiles that inform personalized and preventive medicine strategies in public health policies.
Dr. Angélica Beate Winter Boldt
Dr. Gabriela Canalli Kretzschmar
Dr. Valéria Bumiller-Bini Hoch
Guest Editors
Manuscript Submission Information
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Keywords
- genetic epidemiology
- founder effect
- complex diseases
- polymorphism
- haplotype
- epigenetics
- non-Mendelian inheritance
- polygenic risk score
- GWAS
- NGS
