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The genetic architecture of the human immune system: a bioresource for autoimmunity and disease pathogenesis.
Roederer, Mario; Quaye, Lydia; Mangino, Massimo; Beddall, Margaret H; Mahnke, Yolanda; Chattopadhyay, Pratip; Tosi, Isabella; Napolitano, Luca; Terranova Barberio, Manuela; Menni, Cristina; Villanova, Federica; Di Meglio, Paola; Spector, Tim D; Nestle, Frank O.
Afiliação
  • Roederer M; ImmunoTechnology Section, Vaccine Research Center, NIAID, NIH, Bethesda, MD 20892, USA. Electronic address: roederer@nih.gov.
  • Quaye L; Department of Twin Research & Genetic Epidemiology, King's College London, London SE1 7EH, UK.
  • Mangino M; Department of Twin Research & Genetic Epidemiology, King's College London, London SE1 7EH, UK; NIHR Biomedical Research Centre at Guy's and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.
  • Beddall MH; ImmunoTechnology Section, Vaccine Research Center, NIAID, NIH, Bethesda, MD 20892, USA.
  • Mahnke Y; ImmunoTechnology Section, Vaccine Research Center, NIAID, NIH, Bethesda, MD 20892, USA.
  • Chattopadhyay P; ImmunoTechnology Section, Vaccine Research Center, NIAID, NIH, Bethesda, MD 20892, USA.
  • Tosi I; Cutaneous Medicine Unit, St. John's Institute of Dermatology, King's College London, London SE1 9RT, UK; NIHR Biomedical Research Centre at Guy's and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.
  • Napolitano L; Cutaneous Medicine Unit, St. John's Institute of Dermatology, King's College London, London SE1 9RT, UK.
  • Terranova Barberio M; Cutaneous Medicine Unit, St. John's Institute of Dermatology, King's College London, London SE1 9RT, UK.
  • Menni C; Department of Twin Research & Genetic Epidemiology, King's College London, London SE1 7EH, UK.
  • Villanova F; Cutaneous Medicine Unit, St. John's Institute of Dermatology, King's College London, London SE1 9RT, UK; NIHR Biomedical Research Centre at Guy's and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.
  • Di Meglio P; Cutaneous Medicine Unit, St. John's Institute of Dermatology, King's College London, London SE1 9RT, UK.
  • Spector TD; Department of Twin Research & Genetic Epidemiology, King's College London, London SE1 7EH, UK. Electronic address: tim.spector@kcl.ac.uk.
  • Nestle FO; Cutaneous Medicine Unit, St. John's Institute of Dermatology, King's College London, London SE1 9RT, UK; NIHR Biomedical Research Centre at Guy's and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.
Cell ; 161(2): 387-403, 2015 Apr 09.
Article em En | MEDLINE | ID: mdl-25772697
ABSTRACT
Despite recent discoveries of genetic variants associated with autoimmunity and infection, genetic control of the human immune system during homeostasis is poorly understood. We undertook a comprehensive immunophenotyping approach, analyzing 78,000 immune traits in 669 female twins. From the top 151 heritable traits (up to 96% heritable), we used replicated GWAS to obtain 297 SNP associations at 11 genetic loci, explaining up to 36% of the variation of 19 traits. We found multiple associations with canonical traits of all major immune cell subsets and uncovered insights into genetic control for regulatory T cells. This data set also revealed traits associated with loci known to confer autoimmune susceptibility, providing mechanistic hypotheses linking immune traits with the etiology of disease. Our data establish a bioresource that links genetic control elements associated with normal immune traits to common autoimmune and infectious diseases, providing a shortcut to identifying potential mechanisms of immune-related diseases.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Imunofenotipagem / Doenças do Sistema Imunitário Tipo de estudo: Etiology_studies Limite: Adult / Aged / Female / Humans / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Imunofenotipagem / Doenças do Sistema Imunitário Tipo de estudo: Etiology_studies Limite: Adult / Aged / Female / Humans / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article