Post-GWAS Era: Elucidating the Individual Polygenic Risk of Developing Complex Diseases and Gene by Environment Interactions
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Cellular Biochemistry".
Deadline for manuscript submissions: closed (31 March 2021) | Viewed by 238
Special Issue Editor
Interests: human genetics; complex diseases and traits; neuropsychiatric disorders; fetal and maternal genetics; gene by environment interactions
Special Issue Information
Dear Colleagues,
Individual risk to developing complex diseases is the result of a combination of individual polygenic predispositions interacting with the environment. The era of genome-wide association studies (GWAS) using large datasets of individuals has provided us with an unprecedented and increasing amount of inherited common variants associated with thousands of clinically relevant traits and diseases. However, understanding the functional and causal mechanisms underlying those associations requires further studies, including fine mapping of GWAS loci, identification of eQTLs, prioritization of putative functional SNPs, and exploration of the potential regulatory function of associated noncoding regions of the genome.
On the other hand, for the first time, common genetic data could be used to predict disease risk, with a potential clinical utility. Polygenic risk scores (PRS) have been used to quantify the individual genetic liability to complex diseases by combining variants according to a polygenic additive model, though the portability of prediction across ancestries has been limited. Additionally, PRS may be used to shed light on the potential shared genetic architecture across complex diseases and environmental trait risk factors for diseases.
This Special Issue invites original research manuscripts and reviews with the aim to address several aspects of the post-GWAS era, with a special focus on the broad usage of discovered variants, including exploration of functional mechanisms, prediction of individual disease risk across ancestries, and interactions between environment and genetics influencing risk for diseases.
We look forward to receiving your contributions.
Dr. Michela Traglia
Guest Editor
Manuscript Submission Information
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Keywords
- GxE interactions
- Risk for diseases
- Polygenic risk scores
- Functional mechanisms
- Noncoding regulatory elements
- GWAS
- eQTLs
