Overexpression of the cytokine BAFF and autoimmunity risk

New England Journal of Medicine

Volumn 376, Issue 17, 2017, Pages 1615-1626

  Steri, M ^a   Orru, V ^a   Idda, M L ^a,q   Pitzalis, M ^a   Pala, M ^a   Zara, I ^b   Sidore, C ^a   Faa, V ^a   Floris, M ^a,b,h   Deiana, M ^a   Asunis, I ^a   Porcu, E ^a   Mulas, A ^a   Piras, M G ^a,q   Lobina, M ^a   Lai, S ^a   Marongiu, M ^a   Serra, V ^a   Sole, G ^a   Busonero, F ^a   Maschio, A ^a   Cusano, R ^b   Cuccuru, G ^b   Deidda, F ^a,f   Poddie, F ^h   Farina, G ⁱ   Dei, M ^a   Virdis, F ^a   Olla, S ^a   Satta, M A ^j   Pani, M ^c   Delitala, A ^k   Cocco, E ^d   Frau, J ^d   Coghe, G ^d   Lorefice, L ^d   Fenu, G ^d   Ferrigno, P ^e,h   Ban, M ^d   Barizzone, N ^l   Leone, M ^m   Guerini, F R ⁿ   Piga, M ^d   Firinu, D ^e   Kockum, I ^t   Bomfim, I Lima ^t   Olsson, T ^t   Alfredsson, L ^t,u   Suarez, A ^v   Carreira, P E ^w   Castillo Palma, M J ^x   Marcus, J H ^t,aa   Congia, M ^g   Angius, A ^a   Melis, M ^e   Gonzalez, A ^y   Riquelme, M E A ^t,z   Da Silva, B M ^ac   Marchini, M ^o   Danieli, M G ^p   Del Giacco, Stefano R ^f,l,q   Mathieu, A ^d   Pani, A ^h   Montgomery, S B ^ac   Rosati, G ^ac   Hillert, J ^q   Sawcer, S ^r   D'FAlfonso, S ^p   Todd, J A ^s   Novembre, J ^ab   Abecasis, G R ⁱ   Whalen, M B ^a   Marrosu, M G ^f   Meloni, A ^a   Sanna, S ^a   Gorospe, M ⁿ   Schlessinger, D ^m   Fiorillo, E ^a   Zoledziewska, M ^a   Cucca, F ^a   more..

^a CNR   (Italy)

^b CENTER FOR ADVANCED STUDIES   (Italy)

^c Ospedale Oncologico A Businco   (Italy)

^d UNIVERSITY OF CAGLIARI   (Italy)

^e DEPARTMENT OF RADIOLOGY   (Italy)

^f Osp Regionale per le Microcitemie   (Italy)

^g BROTZU HOSPITAL   (Italy)

^h UNIVERSITY OF SASSARI   (Italy)

ⁱ Clinica Medica   (Italy)

^j UNIVERSITY HOSPITAL OF SASSARI   (Italy)

^k UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^l CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^m IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

ⁿ UNIVERSITY OF MILAN   (Italy)

^o UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^p NATIONAL INSTITUTE ON AGING   (United States)

^q Università Politecnica Delle Marche e Ospedali Riuniti ^*  (United States)

^r WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^s UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^t KAROLINSKA INSTITUTE   (Sweden)

^u UNIVERSITY OF OVIEDO   (Spain)

^v HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^w HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^x UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^y UNIVERSITY OF GRANADA   (Spain)

^z UNIVERSITY OF CHICAGO   (United States)

^aa Institute of Biomedical Sciences Abel Salazar   (Portugal)

^ab STANFORD UNIVERSITY   (United States)

^ac UNIVERSITY OF MICHIGAN   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

B CELL ACTIVATING FACTOR; MICRORNA; TNFSF13B PROTEIN, HUMAN;

ARTICLE; AUTOIMMUNITY; BAFF GENE; CASE CONTROL STUDY; CONTROLLED STUDY; GENE FUNCTION; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIATION; HIGH RISK POPULATION; HUMAN; HUMORAL IMMUNITY; INDEL MUTATION; ITALY; MAJOR CLINICAL STUDY; MULTIPLE SCLEROSIS; MUTATIONAL ANALYSIS; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; UPREGULATION; GENE EXPRESSION; GENETIC TRANSCRIPTION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; IMMUNOLOGY; METABOLISM; PHENOTYPE; RISK; SEQUENCE ANALYSIS;

AUTOIMMUNITY; B-CELL ACTIVATING FACTOR; CASE-CONTROL STUDIES; GENE EXPRESSION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INDEL MUTATION; ITALY; LUPUS ERYTHEMATOSUS, SYSTEMIC; MICRORNAS; MULTIPLE SCLEROSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; SEQUENCE ANALYSIS, RNA; TRANSCRIPTION, GENETIC;

EID: 85018305337     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1610528     Document Type: Article

References (38)

1. Sawcer S, Franklin RJM, Ban M. Multiple sclerosis genetics. Lancet Neurol 2014; 13: 700-9.
2. Beecham AH, Patsopoulos NA, Xifara DK, et al. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet 2013; 45: 1353-60.
3. Bentham J, Morris DL, Cunninghame Graham DS, et al. Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat Genet 2015; 47: 1457-64.
4. OrrV, Steri M, Sole G, et al. Genetic variants regulating immune cell levels in health and disease. Cell 2013; 155: 242-56.
5. Zavattari P, Deidda E, Whalen M, et al. Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: Demography, chromosome recombination frequency and selection. Hum Mol Genet 2000; 9: 2947-57.
6. Sidore C, Busonero F, Maschio A, et al. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Nat Genet 2015; 47: 1272-81.
7. Rosati G. The prevalence of multiple sclerosis in the world: An update. Neurol Sci 2001; 22: 117-39.
8. Piga M, Casula L, Perra D, et al. Population-based analysis of hospitalizations in a West-European region revealed major changes in hospital utilization for patients with systemic lupus erythematosus over the period 2001-2012. Lupus 2016; 25: 28-37.
9. Danjou F, Zoledziewska M, Sidore C, et al. Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. Nat Genet 2015; 47: 1264-71.
10. Zoledziewska M, Sidore C, Chiang CWK, et al. Height-reducing variants and selection for short stature in Sardinia. Nat Genet 2015; 47: 1352-6.
11. Mackay F, Schneider P, Rennert P, Browning J. BAFF AND APRIL: A tutorial on B cell survival. Annu Rev Immunol 2003; 21: 231-64.
12. Navarra SV, Guzm RM, Gallacher AE, et al. Efficacy and safety of belimumab in patients with active systemic lupus erythematosus: A randomised, placebocontrolled, phase 3 trial. Lancet 2011; 377: 721-31.
13. Pilia G, Chen W-M, Scuteri A, et al. Heritability of cardiovascular and personality traits in 6, 148 Sardinians. PLoS Genet 2006; 2(8): E132.
14. Sanna S, Pitzalis M, Zoledziewska M, et al. Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat Genet 2010; 42: 495-7.
15. Holsinger KE, Weir BS. Genetics in geographically structured populations: Defining, estimating and interpreting F(ST). Nat Rev Genet 2009; 10: 639-50.
16. Yi X, Liang Y, Huerta-Sanchez E, et al. Sequencing of 50 human exomes reveals adaptation to high altitude. Science 2010; 329: 75-8.
17. Voight BF, Kudaravalli S, Wen X, Pritchard JK. A map of recent positive selection in the human genome. PLoS Biol 2006; 4(3): E72.
18. Ferrer-Admetlla A, Liang M, Korneliussen T, Nielsen R. On detecting incomplete soft or hard selective sweeps using haplotype structure. Mol Biol Evol 2014; 31: 1275-91.
19. 1000 Genomes Project Consortium, Auton A, Brooks LD, et al. A global reference for human genetic variation. Nature 2015; 526: 68-74.
20. Tipton CM, Fucile CF, Darce J, et al. Diversity, cellular origin and autoreactivity of antibody-secreting cell population expansions in acute systemic lupus erythematosus. Nat Immunol 2015; 16: 755-65.
21. Afonso-Grunz F, Mler S. Principles of miRNA-mRNA interactions: Beyond sequence complementarity. Cell Mol Life Sci 2015; 72: 3127-41.
22. Finnerty JR, Wang W-X, Hert SS, Wilfred BR, Mao G, Nelson PT. The miR-15/107 group of microRNA genes: Evolutionary biology, cellular functions, roles in human diseases. J Mol Biol 2010; 402: 491-509.
23. Nielsen R. Molecular signatures of natural selection. Annu Rev Genet 2005; 39: 197-218.
24. Moore PA, Belvedere O, Orr A, et al. BLyS: Member of the tumor necrosis factor family and B lymphocyte stimulator. Science 1999; 285: 260-3.
25. Mackay F, Woodcock SA, Lawton P, et al. Mice transgenic for BAFF develop lymphocytic disorders along with autoimmune manifestations. J Exp Med 1999; 190: 1697-710.
26. The International Multiple Sclerosis Genetics Consortium (IMSGC), Wellcome Trust Case Control Consortium 2 (WTCCC2). Genetic risk and a primary role for cellmediated immune mechanisms in multiple sclerosis. Nature 2011; 476: 214-9.
27. Pandit L, Ban M, Beecham AH, et al. European multiple sclerosis risk variants in the south Asian population. Mult Scler 2016; 22: 1536-40.
28. Groom JR, Fletcher CA, Walters SN, et al. BAFF and MyD88 signals promote a lupuslike disease independent of T cells. J Exp Med 2007; 204: 1959-71.
29. Hauser SL, Waubant E, Arnold DL, et al. B-cell depletion with rituximab in relapsing-remitting multiple sclerosis. N Engl J Med 2008; 358: 676-88.
30. Kappos L, Li D, Calabresi PA, et al. Ocrelizumab in relapsing-remitting multiple sclerosis: A phase 2, randomised, placebo-controlled, multicentre trial. Lancet 2011; 378: 1779-87.
31. Zouggari Y, Ait-Oufella H, Bonnin P, et al. B lymphocytes trigger monocyte mobilization and impair heart function after acute myocardial infarction. Nat Med 2013; 19: 1273-80.
32. Anolik JH, Barnard J, Owen T, et al. Delayed memory B cell recovery in peripheral blood and lymphoid tissue in systemic lupus erythematosus after B cell depletion therapy. Arthritis Rheum 2007; 56: 3044-56.
33. Cambridge G, Isenberg DA, Edwards JCW, et al. B cell depletion therapy in systemic lupus erythematosus: Relationships among serum B lymphocyte stimulator levels, autoantibody profile and clinical response. Ann Rheum Dis 2008; 67: 1011-6.
34. Sanz I. Connective tissue diseases: The conundrum of B cell depletion in SLE. Nat Rev Rheumatol 2009; 5: 304-5.
35. Raj T, Kuchroo M, Replogle JM, Raychaudhuri S, Stranger BE, De Jager PL. Common risk alleles for inflammatory diseases are targets of recent positive selection. Am J Hum Genet 2013; 92: 517-29.
36. Tognotti E. Program to eradicate malaria in Sardinia, 1946-1950. Emerg Infect Dis 2009; 15: 1460-6.
37. Liu XQ, Stacey KJ, Horne-Debets JM, et al. Malaria infection alters the expression of B-cell activating factor resulting in diminished memory antibody responses and survival. Eur J Immunol 2012; 42: 3291-301.
38. Cohen S, McGregor IA, Carrington S. Gamma-globulin and acquired immunity to human malaria. Nature 1961; 192: 733-7.