Post-GWAS knowledge gap: the how, where, and when.
NPJ Parkinsons Dis
; 6: 23, 2020.
Article
em En
| MEDLINE
| ID: mdl-32964108
ABSTRACT
Genetic risk for complex diseases very rarely reflects only Mendelian-inherited phenotypes where single-gene mutations can be followed in families by linkage analysis. More commonly, a large set of low-penetrance, small effect-size variants combine to confer risk; they are normally revealed in genome-wide association studies (GWAS), which compare large population groups. Whereas Mendelian inheritance points toward disease mechanisms arising from the mutated genes, in the case of GWAS signals, the effector proteins and even general risk mechanism are mostly unknown. Instead, the utility of GWAS currently lies primarily in predictive and diagnostic information. Although an amazing body of GWAS-based knowledge now exists, we advocate for more funding towards the exploration of the fundamental biology in post-GWAS studies; this research will bring us closer to causality and risk gene identification. Using Parkinson's Disease as an example, we ask, how, where, and when do risk loci contribute to disease?
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Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
Idioma:
En
Revista:
NPJ Parkinsons Dis
Ano de publicação:
2020
Tipo de documento:
Article