Transancestral mapping and genetic load in systemic lupus erythematosus
Langefeld, Carl D. (Wake Forest School of Medicine (Winston-Salem, Estats Units d'Amèrica))
Ainsworth, Hannah C. (Wake Forest School of Medicine (Winston-Salem, Estats Units d'Amèrica))
Graham, Deborah S. Cunninghame (Guy's and St Thomas' NHS Foundation Trust (Regne Unit))
Kelly, Jennifer A. (Oklahoma Medical Research Foundation)
Comeau, Mary E. (Wake Forest School of Medicine (Winston-Salem, Estats Units d'Amèrica))
Marion, Miranda C. (Wake Forest School of Medicine (Winston-Salem, Estats Units d'Amèrica))
Howard, Timothy D. (Wake Forest School of Medicine (Winston-Salem, Estats Units d'Amèrica). Center for Human Genomics and Personalized Medicine Research)
Ramos, Paula S. (Medical University of South Carolina)
Croker, Jennifer A. (Universitat Autònoma de Barcelona. Facultat de Medicina)
Morris, David L. (Guy's and St Thomas' NHS Foundation Trust (Regne Unit))
Sandling, Johanna K. (Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University)
Almlöf, Jonas Carlsson (Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University)
Acevedo-Vásquez, Eduardo M. (Departamento de Reumatología, Hospital G. Almenara y Facultad de Medicina, Universidad Nacional Mayor de San Marcos)
Alarcón, Graciela S. (Universitat Autònoma de Barcelona. Facultat de Medicina)
Babini, Alejandra M. (Hospital Italiano de Córdoba)
Baca, Vicente (Hospital de Pediatría (Mèxic))
Bengtsson, Anders A. (Lund University (Suècia))
Berbotto, Guillermo A. (Hospital Eva Perón (Argentina))
Bijl, Marc (Martini Hospital (Països Baixos))
Brown, Elizabeth E. (Universitat Autònoma de Barcelona. Facultat de Medicina)
Brunner, Hermine I. (Cincinnati Children's Hospital Medical Center (Estats Units d'Amèrica))
Cardiel, Mario H. (Centro de Investigación Clínica de Morelia)
Catoggio, Luis (Hospital Italiano de Buenos Aires (Argentina))
Cervera, Ricard (Hospital Clínic i Provincial de Barcelona)
Cucho-Venegas, Jorge M. (Universidad Nacional Mayor de San Marcos (Lima, Perú))
Dahlqvist, Solbritt Rantapää (Umeå University)
D'Alfonso, Sandra (University of Eastern Piedmont (Itàlia))
Da Silva, Berta Martins (Unidade Multidisciplinar em Investigação Biomédica/Instituto de Ciências Biomédicas de Abel Salazar-Universidade do Porto)
de la Rúa Figueroa, Iñigo (Hospital Universitario de Gran Canaria Dr. Negrín)
Doria, Andrea (University of Padua)
Edberg, Jeffrey C. (Universitat Autònoma de Barcelona. Facultat de Medicina)
Endreffy, Emőke (University of Szeged)
Esquivel-Valerio, Jorge A. (Universidad Autónoma de Nuevo León (Mèxic))
Fortin, Paul R. (CHU de Québec Université Laval)
Freedman, Barry I. (Section on Nephrology, Wake Forest School of Medicine)
Frostegård, Johan (Karolinska Institutet (Estocolm, Suècia))
García, Mercedes A. (Hospital Interzonal General de Agudos Eva Perón)
de la Torre, Ignacio García (University of Guadalajara, Departamento de Fisiología)
Gilkeson, Gary S. (Department of Medicine, Medical University of South Carolina)
Gladman, Dafna D. (Toronto Western Hospital)
Gunnarsson, Iva (Karolinska University Hospital and Karolinska Institutet (Suècia))
Guthridge, Joel M. (Oklahoma Medical Research Foundation)
Huggins, Jennifer L. (Cincinnati Children's Hospital Medical Center)
James, Judith A. (Departments of Medicine and Pathology, University of Oklahoma Health Sciences Center)
Kallenberg, Cees G. M. (University of Groningen)
Kamen, Diane L. (Department of Medicine, Medical University of South Carolina)
Karp, David R. (Department of Immunology, University of Texas SouthWestern Medical Center)
Kaufman, Kenneth M. (Cincinnati Children's Hospital Medical Center)
Kottyan, Leah C. (Cincinnati Children's Hospital Medical Center)
Kovács, László (University of Szeged)
Laustrup, Helle (Odense University Hospital (Dinamarca))
Lauwerys, Bernard R. (Université catholique de Louvain)
Li, Quan-Zhen (Department of Immunology, University of Texas SouthWestern Medical Center)
Maradiaga-Ceceña, Marco A. (Hospital General de Culiacán)
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra")
McCune, Joseph M. (University of Michigan Medical Center)
McWilliams, David R. (Wake Forest School of Medicine (Winston-Salem, Estats Units d'Amèrica))
Merrill, Joan T. (Oklahoma Medical Research Foundation)
Miranda, Pedro (Centro de Estudios Reumatológicos, Santiago de Chile)
Moctezuma, José F. (Hospital General de México. Departamento de Reumatología)
Nath, Swapan K. (Oklahoma Medical Research Foundation)
Niewold, Timothy B. (Mayo Clinic (Rochester, Estats Units d'Amèrica). Department of Rheumatology)
Orozco, Lorena (Instituto Nacional de Medicina Genómica)
Ortego-Centeno, Norberto (Hospital Universitario San Cecilio (Granada))
Petri, Michelle (Department of Medicine, Johns Hopkins University School of Medicine)
Pineau, Christian A. (Rheumatology Division, McGill University)
Pons-Estel, Bernardo A. (Sanatorio Parque)
Pope, Janet (University of Western Ontario)
Raj, Prithvi (Department of Immunology, University of Texas SouthWestern Medical Center)
Ramsey-Goldman, Rosalind (Division of Rheumatology, Northwestern University Feinberg School of Medicine)
Reveille, John D. (The University of Texas)
Russell, Laurie P. (Wake Forest School of Medicine (Winston-Salem, Estats Units d'Amèrica))
Sabio, José M. (Hospital Universitario Virgen de las Nieves (Granada))
Aguilar-Salinas, Carlos Alberto (Instituto Nacional de Ciencias Médicas y Nutrición, Department of Endocrinology and Metabolism)
Scherbarth, Hugo R. (Unidad Reumatología y Enfermedades Autoinmunes H.I.G.A. Dr Alende Mar del Plata)
Scorza, Raffaella (University of Milan)
Seldin, Michael F. (UC Davis School of Medicine)
Sjöwall, Christopher (Rheumatology Division of Neuro and Inflammation Sciences, Department of Clinical and Experimental Medicine, Linköping University)
Svenungsson, Elisabet (Karolinska University Hospital and Karolinska Institutet (Suècia))
Thompson, Susan D. (Cincinnati Children's Hospital Medical Center)
Toloza, Sergio M. A. (Ministry of Health, San Fernando del Valle de Catamarca)
Truedsson, Lennart (Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University)
Tusié-Luna, Teresa (Unidad de Biología Molecular y Medicina Genómica Instituto de Investigaciones Biomédicas)
Vasconcelos, Carlos (Universidade do Porto)
Vilá, Luis M. (University of Puerto Rico)
Wallace, Daniel J. (Cedars-Sinai Medical Center)
Weisman, Michael H. (Cedars-Sinai Medical Center)
Wither, Joan E. (Toronto Western Hospital)
Bhangale, Tushar (Human Genetics (San Francisco, Estats Units d'Amèrica))
Oksenberg, Jorge (Department of Neurology and Institute of Human Genetics, University of California)
Rioux, John D. (Université de Montréal and the Montreal Heart Institute)
Gregersen, Peter K. (Center for Genomics & Human Genetics, The Feinstein Institute for Medical Research)
Syvänen, Ann-Christine (Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University)
Rönnblom, Lars (Department of Medical Sciences, Rheumatology, Uppsala University)
Criswell, Lindsey A. (University of California San Francisco. School of Medicine)
Jacob, Chaim O. (Keck School of Medicine)
Sivils, Kathy L. (Oklahoma Medical Research Foundation (Estats Units d'Amèrica))
Tsao, Betty P. (Department of Medicine, Medical University of South Carolina)
Schanberg, Laura E. (Department of Pediatrics, Duke University)
Behrens, Timothy W. (Human Genetics, Genentech Inc, South San Francisco)
Silverman, Earl D. (University of Toronto)
Alarcón-Riquelme, Marta E. (Karolinska Institutet (Estocolm, Suècia))
Kimberly, Robert P. (Universitat Autònoma de Barcelona. Facultat de Medicina)
Harley, John B. (Cincinnati Children's Hospital Medical Center)
Wakeland, Edward K. (Department of Immunology, University of Texas SouthWestern Medical Center)
Graham, Robert R. (Human GeneticsSan Francisco (San Francisco, Estats Units d'Amèrica))
Gaffney, Patrick M. (Oklahoma Medical Research Foundation)
Vyse, Timothy (Guy's and St Thomas' NHS Foundation Trust (Regne Unit))

Data:	2017
Resum:	Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P <5 × 10 -8), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE. Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong ethnic and gender bias. In a transancestral genetic association study, Langefeld et al. identify 24 novel regions associated with risk to lupus and propose a cumulative hits hypothesis for loci conferring risk to SLE.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Publicat a:	Nature communications, Vol. 8 (07 2017) , ISSN 2041-1723

DOI: 10.1038/ncomms16021
PMID: 28714469

18 p, 1.4 MB

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