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Genetics of Infectious and Inflammatory Diseases: Overlapping Discoveries from Association and Exome-Sequencing Studies.
Langlais, David; Fodil, Nassima; Gros, Philippe.
Afiliación
  • Langlais D; McGill University Research Centre on Complex Traits, McGill University, Montreal, Quebec H3G 0B1, Canada; email: david.langlais@mcgill.ca , nassima.fodil@mcgill.ca , philippe.gros@mcgill.ca.
  • Fodil N; Department of Biochemistry, McGill University, Montreal, Quebec H3G 0B1, Canada.
  • Gros P; McGill University Research Centre on Complex Traits, McGill University, Montreal, Quebec H3G 0B1, Canada; email: david.langlais@mcgill.ca , nassima.fodil@mcgill.ca , philippe.gros@mcgill.ca.
Annu Rev Immunol ; 35: 1-30, 2017 04 26.
Article en En | MEDLINE | ID: mdl-27912315
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Vacunas / Síndromes de Inmunodeficiencia / Infecciones / Inflamación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Annu Rev Immunol Año: 2017 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Vacunas / Síndromes de Inmunodeficiencia / Infecciones / Inflamación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Annu Rev Immunol Año: 2017 Tipo del documento: Article