Portal de Periódicos da CAPES

Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges

2017; Public Library of Science; Volume: 13; Issue: 10 Linguagem: Inglês

10.1371/journal.pgen.1006944

1553-7404

Lavinia Paternoster, Kate Tilling, George Davey Smith,

Bioinformatics and Genomic Networks

The past decade has been proclaimed as a hugely successful era of gene discovery through the high yields of many genome-wide association studies (GWAS). However, much of the perceived benefit of such discoveries lies in the promise that the identification of genes that influence disease would directly translate into the identification of potential therapeutic targets, but this has yet to be realized at a level reflecting expectation. One reason for this, we suggest, is that GWAS, to date, have generally not focused on phenotypes that directly relate to the progression of disease and thus speak to disease treatment.