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Annu Rev Immunol. 2017 Apr 26;35:1-30. doi: 10.1146/annurev-immunol-051116-052442. Epub 2016 Dec 1.

Genetics of Infectious and Inflammatory Diseases: Overlapping Discoveries from Association and Exome-Sequencing Studies.

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McGill University Research Centre on Complex Traits, McGill University, Montreal, Quebec H3G 0B1, Canada; email: , ,
Department of Biochemistry, McGill University, Montreal, Quebec H3G 0B1, Canada.


Genome technologies have defined a complex genetic architecture in major infectious, inflammatory, and autoimmune disorders. High density marker arrays and Immunochips have powered genome-wide association studies (GWAS) that have mapped nearly 450 genetic risk loci in 22 major inflammatory diseases, including a core of common genes that play a central role in pathological inflammation. Whole-exome and whole-genome sequencing have identified more than 265 genes in which mutations cause primary immunodeficiencies and rare forms of severe inflammatory bowel disease. Combined analysis of inflammatory disease GWAS and primary immunodeficiencies point to shared proteins and pathways that are required for immune cell development and protection against infections and are also associated with pathological inflammation. Finally, sequencing of chromatin immunoprecipitates containing specific transcription factors, with parallel RNA sequencing, has charted epigenetic regulation of gene expression by proinflammatory transcription factors in immune cells, providing complementary information to characterize morbid genes at infectious and inflammatory disease loci.


epigenetics; genome sequencing; genome-wide association studies; infections; inflammation; primary immunodeficiencies

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