Per accedir als documents amb el text complet, si us plau, seguiu el següent enllaç: http://hdl.handle.net/2445/147743
| dc.contributor.author | González Serna, David |
|---|---|
| dc.contributor.author | Carmona, Elio G. |
| dc.contributor.author | Ortego Centeno, Norberto |
| dc.contributor.author | Simeón Aznar, Carmen Pilar |
| dc.contributor.author | Solans, Roser |
| dc.contributor.author | Hernández Rodríguez, José |
| dc.contributor.author | Tolosa Vilella, Carles |
| dc.contributor.author | Castañeda, Santos |
| dc.contributor.author | Narváez García, Francisco Javier |
| dc.contributor.author | Martinez Valle, Ferran |
| dc.contributor.author | Witte, Torsten |
| dc.contributor.author | Neumann, Thomas |
| dc.contributor.author | Holle, Julia |
| dc.contributor.author | Beretta, Lorenzo |
| dc.contributor.author | Boiardi, Luigi |
| dc.contributor.author | Emmi, Giacomo |
| dc.contributor.author | Cimmino, Marco A. |
| dc.contributor.author | Vaglio, Augusto |
| dc.contributor.author | Herrick, Ariane L. |
| dc.contributor.author | Denton, Christopher P. |
| dc.contributor.author | Salvarani, Carlo |
| dc.contributor.author | Cid Xutglà, M. Cinta |
| dc.contributor.author | Morgan, Ann W. |
| dc.contributor.author | Fonseca, Carmen |
| dc.contributor.author | González-Gay, Miguel A. |
| dc.contributor.author | Martín, Javier |
| dc.contributor.author | Márquez, Ana |
| dc.contributor.author | European GCA Consortium |
| dc.contributor.author | European Scleroderma Group |
| dc.date | 2020-01-14T10:19:45Z |
| dc.date | 2020-01-14T10:19:45Z |
| dc.date | 2018-12-26 |
| dc.date | 2020-01-14T10:19:46Z |
| dc.identifier | 1932-6203 |
| dc.identifier | 691762 |
| dc.identifier.uri | http://hdl.handle.net/2445/147743 |
| dc.description | BACKGROUND: The TNFSF13B (TNF superfamily member 13b) gene encodes BAFF, a cytokine with a crucial role in the differentiation and activation of B cells. An insertion-deletion variant (GCTGT→A) of this gene, leading to increased levels of BAFF, has been recently implicated in the genetic predisposition to several autoimmune diseases, including multiple sclerosis, systemic lupus erythematosus, and rheumatoid arthritis. Based on the elevated levels of this cytokine found in patients with giant cell arteritis (GCA) and systemic sclerosis (SSc), we aimed to assess whether this functional variant also represents a novel genetic risk factor for these two disorders. METHODS: A total of 1,728 biopsy-proven GCA patients from 4 European cohorts, 4,584 SSc patients from 3 European cohorts and 5,160 ethnically-matched healthy controls were included in the study. The single nucleotide polymorphism (SNP) rs374039502, which colocalizes with the genetic variant previously implicated in autoimmunity, was genotyped using a custom TaqMan assay. First, association analysis was conducted in each independent cohort using χ2 test in Plink (v1.9). Subsequently, different case/control sets were meta-analyzed by the inverse variance method. RESULTS: No statistically significant differences were found when allele distributions were compared between cases and controls for any of the analyzed cohorts. Similarly, combined analysis of the different sets evidenced a lack of association of the rs374039502 variant with GCA (P = 0.421; OR (95% CI) = 0.92 (0.75-1.13)) and SSc (P = 0.500; OR (95% CI) = 1.05 (0.91-1.22)). The stratified analysis considering the main clinical subphenotypes of these diseases yielded similar negative results. CONCLUSION: Our data suggest that the TNFSF13B functional variant does not contribute to the genetic network underlying GCA and SSc. |
| dc.format | 9 p. |
| dc.format | application/pdf |
| dc.language | eng |
| dc.publisher | Public Library of Science (PLoS) |
| dc.relation | Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0209343 |
| dc.relation | PLoS One, 2018, vol. 13, num. 12, p. e0209343 |
| dc.relation | https://doi.org/10.1371/journal.pone.0209343 |
| dc.rights | cc-by (c) González Serna, David et al., 2018 |
| dc.rights | http://creativecommons.org/licenses/by/3.0/es |
| dc.rights | info:eu-repo/semantics/openAccess |
| dc.subject | Genètica molecular |
| dc.subject | Cèl·lules B |
| dc.subject | Molecular genetics |
| dc.subject | B cells |
| dc.title | A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility |
| dc.type | info:eu-repo/semantics/article |
| dc.type | info:eu-repo/semantics/publishedVersion |
Documents relacionats
Altres documents del mateix autor/a
González Serna, David; Carmona, Elio G.; Ortego Centeno, Norberto; Simeón, Carmen P.; Solans, Roser; Hernández Rodríguez, José; Tolosa, Carlos; Castañeda, Santos; Narváez García, Francisco Javier; Martinez Valle, Ferran; Witte, Torsten; Neumann, Thomas; Holle, Julia; Beretta, Lorenzo; Boiardi, Luigi; Emmi, Giacomo; Cimmino, Marco A.; Vaglio, Augusto; Herrick, Ariane L.; Denton, Christopher P.; Salvarani, Carlo; Cid, María C.; Morgan, Ann W.; Fonseca, Carmen; González Gay, Miguel A.; Martín, Javier; Márquez, Ana; European GCA Consortium; European Scleroderma Group
González Serna, David; Carmona, Elio G.; Ortego Centeno, Norberto; Simeón, Carmen P.; Solans, Roser; Hernández Rodríguez, José; Tolosa, Carlos; Castañeda, Santos; Narváez García, Francisco Javier; Martinez Valle, Ferran; Witte, Torsten; Neumann, Thomas; Holle, Julia; Beretta, Lorenzo; Boiardi, Luigi; Emmi, Giacomo; Cimmino, Marco A.; Vaglio, Augusto; Herrick, Ariane L.; Denton, Christopher P.; Salvarani, Carlo; Cid, María C.; Morgan, Ann W.; Fonseca, Carmen; González Gay, Miguel A.; Martín, Javier; Márquez, Ana; European GCA Consortium; European Scleroderma Group
A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA.
Márquez, Ana; Solans, Roser; Hernández Rodríguez, José; Cid Xutglà, M. Cinta; Castañeda, Santos; Ramentol, Marc; Rodríguez-Rodríguez, Luis; Narváez García, Francisco Javier; Blanco, Ricardo; Ortego Centeno, Norberto; Palm, Oyvind; Diamantopoulos, Andreas P.; Braun, Niko; Moosig, Frank; Witte, Torsten; Beretta, Lorenzo; Lunardi, Claudio; Cimmino, Marco A.; Vaglio, Augusto; Salvarani, Carlo; González-Gay, Miguel A.; Martín, Javier
Márquez, Ana; Hernández Rodríguez, José; Cid Xutglà, M. Cinta; Solans, Roser; Castañeda, Santos; Fernández-Contreras, M. E.; Ramentol, Marc; Morado, Inmaculada C.; Narváez García, Francisco Javier; Gómez Vaquero, Carmen; Martínez Taboada, Víctor Manuel; Ortego Centeno, Norberto; Sopeña, Bernardo; Monfort, Jordi; García-Villanueva, María Jesús; Caminal Montero, L.; Miguel, Eugenio de; Blanco, Ricardo; Spanish GCA Consortium; Palm, Oyvind; Molberg, O.; Latus, J.; Braun, Niko; Moosig, Frank; Witte, Torsten; Beretta, Lorenzo; Santaniello, Alessandro; Pazzola, Giulia; Boiardi, Luigi; Salvarani, Carlo; González-Gay, Miguel A.; Martín, Javier
Diaz-Gallo, Lina-Marcela; Simeón Aznar, Carmen Pilar; Broen, Jasper C.; Ortego Centeno, Norberto; Beretta, Lorenzo; Vonk, Madelon C.; Carreira, Patricia; Vargas, Sofia; Román-Ivorra, José Andrés; González-Gay, Miguel A.; Tolosa Vilella, Carles; López-Longo, Francisco J.; Espinosa Garriga, Gerard; Vicente, Esther F.; Hesselstrand, Roger; Riemekasten, Gabriela; Witte, Torsten; Distler, Jörg H.V.; Voskuyl, Alexandre E.; Schuerwegh, Annemie J.; Shiels, Paul G.; Nordin, Annika; Padyukov, Leonid; Hoffmann-Vold, Anna-Maria; Scorza, Raffaella; Lunardi, Claudio; Airó, Paolo; van Laar, Jacob M.; Hunzelmann, Nicolas; Gathof, Birgit S.; Kreuter, Alexander; Herrick, Ariane; Worthington, Jane; Denton, Christopher P.; Zhou, Xiaodong; Arnett, Frank C.; Fonseca, Carmen; Koeleman, Bobby P. C.; Narváez García, Francisco Javier; Spanish Scleroderma Group