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Genome-wide association studies are transformative in revealing the polygenetic basis of common diseases, with autoimmune diseases leading the charge. Although the field is just over 10 years old, advances in understanding the underlying mechanistic pathways of these conditions, which result from a dense multifactorial blend of genetic, developmental and environmental factors, have already been informative, including insights into therapeutic possibilities. Nevertheless, the challenge of identifying the actual causal genes and pathways and their biological effects on altering disease risk remains for many identified susceptibility regions. It is this fundamental knowledge that will underpin the revolution in patient stratification, the discovery of therapeutic targets and clinical trial design in the next 20 years. Here we outline recent advances in analytical and phenotyping approaches and the emergence of large cohorts with standardized gene-expression data and other phenotypic data that are fueling a bounty of discovery and improved understanding of human physiology.

Original publication

DOI

10.1038/s41590-018-0129-8

Type

Journal article

Journal

Nat Immunol

Publication Date

07/2018

Volume

19

Pages

674 - 684

Keywords

Autoimmune Diseases, Chromosome Mapping, Genetic Variation, Genome-Wide Association Study, Humans, Infection, Microbiota, Random Allocation, Sample Size