title: The genomics of autoimmune disease in the era of genome-wide association studies and beyond.
abstract: Recent advances in the field of genetics have dramatically changed our understanding of autoimmune disease. Candidate gene and, more recently, genome-wide association (GWA) studies have led to an explosion in the number of loci and pathways known to contribute to autoimmune phenotypes. Since the 1970s, researchers have known that several alleles in the MHC region play a role in the pathogenesis of many autoimmune diseases. More recent work has identified numerous risk loci involving both the innate and adaptive immune responses. However, much remains to be learned about the heritability of autoimmune conditions. Most regions found through GWA scans have yet to isolate the association to the causal allele(s) responsible for conferring disease risk. A role for rare variants (allele frequencies of <1%) has begun to emerge. Future research will use next-generation sequencing (NGS) technology to comprehensively evaluate the human genome for risk variants. Whole-transcriptome sequencing is now possible, which will provide much more detailed gene expression data. The dramatic drop in the cost and time required to sequence the entire human genome will ultimately make it possible for this technology to be used as a clinical diagnostic tool.
authors: Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73003, USA. lessardc@omrf.org
authors: Christopher J
authors: CJ
authors: Lessard
authors: John A
authors: JA
authors: Ice
authors: Indra
authors: I
authors: Adrianto
authors: Graham B
authors: GB
authors: Wiley
authors: Jennifer A
authors: JA
authors: Kelly
authors: Patrick M
authors: PM
authors: Gaffney
authors: Courtney G
authors: CG
authors: Montgomery
authors: Kathy L
authors: KL
authors: Moser
mesh_terms: D056704:Adaptive Immunity / Q000235:genetics; D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology*; D055106:Genome-Wide Association Study; D023281:Genomics / Q000639:trends; D057166:High-Throughput Screening Assays; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D019655:Quantitative Trait, Heritable; D012306:Risk