Approaches and advances in the genetic causes of autoimmune disease and their implications


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Type
Article
Change log
Authors
Inshaw, JRJ 
Cutler, AJ 
Burren, OS 
Stefana, MI 
Todd, JA 
Abstract

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.

Description
Keywords
Autoimmune Diseases, Chromosome Mapping, Genetic Variation, Genome-Wide Association Study, Humans, Infections, Microbiota, Random Allocation, Sample Size
Journal Title
Nature Immunology
Conference Name
Journal ISSN
1529-2908
1529-2916
Volume Title
19
Publisher
Springer Nature
Sponsorship
Wellcome Trust (107881/Z/15/Z)