Transancestral mapping and genetic load in systemic lupus erythematosus

Autor: László Kovács, Helle Laustrup, Michael F. Seldin, Jeffrey C. Edberg, Swapan K. Nath, John D. Reveille, Diane L. Kamen, Quan Zhen Li, Guillermo A. Berbotto, Betty P. Tsao, Lennart Truedsson, Dafna D. Gladman, Mario H. Cardiel, Robert R. Graham, Chaim O. Jacob, Carlos Vasconcelos, Iñigo de la Rúa Figueroa, Mary E. Comeau, Deborah S. Cunninghame Graham, Iva Gunnarsson, Rosalind Ramsey-Goldman, Ignacio García-De La Torre, Luis J. Catoggio, Miranda C. Marion, Pedro Miranda, John D. Rioux, Laura E. Schanberg, Jorge R. Oksenberg, Earl D. Silverman, David R. McWilliams, Solbritt Rantapää Dahlqvist, Jennifer A. Croker, Raffaella Scorza, Carl D. Langefeld, Susan D. Thompson, Edward K. Wakeland, Elizabeth E. Brown, Berta Martins da Silva, Christopher Sjöwall, Kenneth M. Kaufman, Jennifer Huggins, Johan Frostegård, Lars Rönnblom, Joan E. Wither, Joseph M. McCune, Laurie P Russell, Sandra D'Alfonso, Johanna K. Sandling, Timothy W. Behrens, Mercedes A. García, Andrea Doria, Vicente Baca, Joel M. Guthridge, Bernardo A. Pons-Estel, José Francisco Moctezuma, Bernard Lauwerys, Sergio Toloza, Timothy D. Howard, Kathy L. Sivils, Hannah C. Ainsworth, Patrick M. Gaffney, David L. Morris, Jorge A. Esquivel-Valerio, Christian A. Pineau, Michelle Petri, Elisabet Svenungsson, Daniel J. Wallace, Norberto Ortego-Centeno, Robert P. Kimberly, Jonas Carlsson Almlöf, Gary S. Gilkeson, Lorena Orozco, Peter K. Gregersen, Judith A. James, Teresa Tusié-Luna, Paul R. Fortin, Marc Bijl, Jennifer A. Kelly, Timothy B. Niewold, Ricard Cervera, Timothy J. Vyse, Javier Martín, Prithvi Raj, Barry I. Freedman, Eduardo Acevedo-Vásquez, Carlos A. Aguilar-Salinas, Paula S. Ramos, Emőke Endreffy, Michael H. Weisman, Leah C. Kottyan, Janet E. Pope, Ann-Christine Syvänen, Joan T. Merrill, Hermine I. Brunner, Luis M. Vilá, Anders A. Bengtsson, Graciela S. Alarcón, Marta E. Alarcón-Riquelme, Jorge M. Cucho-Venegas, John B. Harley, Cees G. M. Kallenberg, Marco A. Maradiaga-Ceceña, David R. Karp, Lindsey A. Criswell, José Mario Sabio, Tushar Bhangale, Hugo R. Scherbarth, Alejandra Babini
Přispěvatelé: UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie, Universitat de Barcelona, Translational Immunology Groningen (TRIGR)
Jazyk: angličtina
Rok vydání: 2017
Předmět:
0301 basic medicine
Genetics and Molecular Biology (all)
Medicin och hälsovetenskap
Multifactorial Inheritance
Autoimmune diseases
General Physics and Astronomy
Genome-wide association study
VARIANTS
Medical and Health Sciences
Biochemistry
DISEASE
0302 clinical medicine
Human genetics
HLA Antigens
immune system diseases
Genotype
Lupus Erythematosus
Systemic
03.02. Klinikai orvostan
Age of Onset
skin and connective tissue diseases
Sequence Deletion
Genetics
REVISED CRITERIA
Genètica humana
Multidisciplinary
Malalties autoimmunitàries
Chemistry (all)
Hispanic or Latino
3. Good health
Genetic load
SHARED EPITOPE HYPOTHESIS
HLA
Estudi de casos
CAUCASIAN POPULATIONS
Medical genetics
Genetic Load
Medical Genetics
medicine.medical_specialty
SUSCEPTIBILITY LOCI
Science
Black People
Human leukocyte antigen
Biology
Polymorphism
Single Nucleotide
Article
White People
General Biochemistry
Genetics and Molecular Biology
PHYLOGENETIC TREES
03 medical and health sciences
Physics and Astronomy (all)
Journal Article
medicine
Humans
GENOME-WIDE ASSOCIATION
American Indian or Alaska Native
Medicinsk genetik
030203 arthritis & rheumatology
Lupus erythematosus
Case-control study
General Chemistry
medicine.disease
RHEUMATOID-ARTHRITIS
Mutagenesis
Insertional
Logistic Models
030104 developmental biology
Lupus eritematós
Case-Control Studies
Immunology
Case studies
Biochemistry
Genetics and Molecular Biology (all)
Anti-SSA/Ro autoantibodies
Zdroj: Nature Communications
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Communications, Vol. 8, p. 16021 [1-18] (2017)
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Communications, 8:16021. Nature Publishing Group
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Langefeld, C D, Ainsworth, H C, Graham, D S C, Kelly, J A, Comeau, M E, Marion, M C, Howard, T D, Ramos, P S, Croker, J A, Morris, D L, Sandling, J K, Almlöf, J C, Acevedo-vásquez, E M, Alarcón, G S, Babini, A M, Baca, V, Bengtsson, A A, Berbotto, G A, Bijl, M, Brown, E E, Brunner, H I, Cardiel, M H, Catoggio, L, Cervera, R, Cucho-venegas, J M, Dahlqvist, S R, D’alfonso, S, Da Silva, B M, De La Rúa Figueroa, I, Doria, A, Edberg, J C, Endreffy, E, Esquivel-valerio, J A, Fortin, P R, Freedman, B I, Frostegård, J, García, M A, De La Torre, I G, Gilkeson, G S, Gladman, D D, Gunnarsson, I, Guthridge, J M, Huggins, J L, James, J A, Kallenberg, C G M, Kamen, D L, Karp, D R, Kaufman, K M, Kottyan, L C, Kovács, L, Laustrup, H, Lauwerys, B R, Li, Q, Maradiaga-ceceña, M A, Martín, J, Mccune, J M, Mcwilliams, D R, Merrill, J T, Miranda, P, Moctezuma, J F, Nath, S K, Niewold, T B, Orozco, L, Ortego-centeno, N, Petri, M, Pineau, C A, Pons-estel, B A, Pope, J, Raj, P, Ramsey-goldman, R, Reveille, J D, Russell, L P, Sabio, J M, Aguilar-salinas, C A, Scherbarth, H R, Scorza, R, Seldin, M F, Sjöwall, C, Svenungsson, E, Thompson, S D, Toloza, S M A, Truedsson, L, Tusié-luna, T, Vasconcelos, C, Vilá, L M, Wallace, D J, Weisman, M H, Wither, J E, Bhangale, T, Oksenberg, J R, Rioux, J D, Gregersen, P K, Syvänen, A, Rönnblom, L, Criswell, L A, Jacob, C O, Sivils, K L, Tsao, B P, Schanberg, L E, Behrens, T W, Silverman, E D, Alarcón-riquelme, M E, Kimberly, R P, Harley, J B, Wakeland, E K, Graham, R R, Gaffney, P M & Vyse, T J 2017, ' Transancestral mapping and genetic load in systemic lupus erythematosus ', Nature Communications, vol. 8, no. 1, 16021 . https://doi.org/10.1038/ncomms16021
Langefeld, C D, Ainsworth, H C, Graham, D S C, Kelly, J A, Comeau, M E, Marion, M C, Howard, T D, Ramos, P S, Croker, J A, Morris, D L, Sandling, J K, Almlöf, J C, Acevedo-Vásquez, E M, Alarcón, G S, Babini, A M, Baca, V, Bengtsson, A, Berbotto, G A, Bijl, M, Brown, E E, Brunner, H I, Cardiel, M H, Catoggio, L, Cervera, R, Cucho-Venegas, J M, Dahlqvist, S R, D'Alfonso, S, Da Silva, B M, de la Rúa Figueroa, I, Doria, A, Edberg, J C, Endreffy, E, Esquivel-Valerio, J A, Fortin, P R, Freedman, B I, Frostegård, J, García, M A, de la Torre, I G, Gilkeson, G S, Gladman, D D, Gunnarsson, I, Guthridge, J M, Huggins, J L, James, J A, Kallenberg, C G M, Kamen, D L, Karp, D R, Kaufman, K M, Kottyan, L C, Kovács, L, Laustrup, H, Lauwerys, B R, Li, Q-Z, Maradiaga-Ceceña, M A, Martín, J, McCune, J M, McWilliams, D R, Merrill, J T, Miranda, P, Moctezuma, J F, Nath, S K, Niewold, T B, Orozco, L, Ortego-Centeno, N, Petri, M, Pineau, C A, Pons-Estel, B A, Pope, J, Raj, P, Ramsey-Goldman, R, Reveille, J D, Russell, L P, Sabio, J M, Aguilar-Salinas, C A, Scherbarth, H R, Scorza, R, Seldin, M F, Sjöwall, C, Svenungsson, E, Thompson, S D, Toloza, S M A, Truedsson, L, Tusié-Luna, T, Vasconcelos, C, Vilá, L M, Wallace, D J, Weisman, M H, Wither, J E, Bhangale, T, Oksenberg, J R, Rioux, J D, Gregersen, P K, Syvänen, A-C, Rönnblom, L, Criswell, L A, Jacob, C O, Sivils, K L, Tsao, B P, Schanberg, L E, Behrens, T W, Silverman, E D, Alarcón-Riquelme, M E, Kimberly, R P, Harley, J B, Wakeland, E K, Graham, R R, Gaffney, P M & Vyse, T J 2017, ' Transancestral mapping and genetic load in systemic lupus erythematosus ', Nature Communications, vol. 8, 16021 . https://doi.org/10.1038/ncomms16021
Nature Communications, Vol 8, Iss 1, Pp 1-18 (2017)
ISSN: 2041-1723
Popis: 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
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.
Databáze: OpenAIRE
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