IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms
CD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2022 |
| País: | España |
| Institución: | Universidad de Barcelona |
| Repositorio: | Dipòsit Digital de la UB |
| OAI Identifier: | oai:diposit.ub.edu:2445/190284 |
| Acceso en línea: | https://hdl.handle.net/2445/190284 |
| Access Level: | acceso abierto |
| Palabra clave: | Polimorfisme genètic Vasculitis Genetic polymorphisms |
| id |
ES_0dc5ea5dc228a68d8dabbb65ef5780b0 |
|---|---|
| oai_identifier_str |
oai:diposit.ub.edu:2445/190284 |
| network_acronym_str |
ES |
| network_name_str |
España |
| repository_id_str |
|
| spelling |
IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene PolymorphismsLiz, Joao Carlos Batista Genre, FernandaPulito Cueto, VerónicaRemuzgo Martínez, SaraPrieto Peña, DianaMárquez, AnaOrtego Centeno, NorbertoLeonardo, María TeresaPeñalba, AnaNarváez, JavierMartín Penagos, LuisBelmar Vega, LaraGómez Fernández, CristinaMiranda Filloy, José A.Caminal Montero, LuisCollado, PazDe Árgila, DiegoQuiroga Colina, PatriciaVicente Rabaneda, Esther F.Triguero Martínez, AnaRubio, EstebanLeón Luque, ManuelBlanco Madrigal, Juan MaríaGalíndez Agirregoikoa, EvaMartín, JavierGualillo, OresteBlanco, RicardoCastañeda, SantosGonzález Gay, Miguel A.López Mejías, RaquelPolimorfisme genèticVasculitisGenetic polymorphismsVasculitisCD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a B-lymphocyte inflammatory condition. Three genetic variants within CD40 (rs1883832, rs1535045, rs4813003) and BLK (rs2254546, rs2736340, rs2618476) as well as two BANK1 polymorphisms (rs10516487, rs3733197), previously associated with inflammatory diseases, were genotyped in 382 Caucasian patients with IgAV and 955 sex- and ethnically matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of CD40, BLK and BANK1 when IgAV patients and healthy controls were compared. Similar results were found when CD40, BLK and BANK1 genotypes or alleles frequencies were compared between patients with IgAV stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. Moreover, no CD40, BLK and BANK1 haplotype differences were disclosed between patients with IgAV and healthy controls and between patients with IgAV stratified according to the clinical characteristics mentioned above. Our findings indicate that CD40, BLK and BANK1 do not contribute to the genetic background of IgAV.MDPI AG2022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/190284Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.3390/jcm11195577Journal of Clinical Medicine, 2022, vol. 11, issue. 19, p. 5577https://doi.org/10.3390/jcm11195577info:eu-repo/grantAgreement/EC/H2020/734899cc by (c) Batista Liz, Joao Carlos et al., 2022http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1902842026-05-27T06:46:51Z |
| dc.title.none.fl_str_mv |
IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms |
| title |
IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms |
| spellingShingle |
IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms Liz, Joao Carlos Batista Polimorfisme genètic Vasculitis Genetic polymorphisms Vasculitis |
| title_short |
IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms |
| title_full |
IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms |
| title_fullStr |
IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms |
| title_full_unstemmed |
IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms |
| title_sort |
IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms |
| dc.creator.none.fl_str_mv |
Liz, Joao Carlos Batista Genre, Fernanda Pulito Cueto, Verónica Remuzgo Martínez, Sara Prieto Peña, Diana Márquez, Ana Ortego Centeno, Norberto Leonardo, María Teresa Peñalba, Ana Narváez, Javier Martín Penagos, Luis Belmar Vega, Lara Gómez Fernández, Cristina Miranda Filloy, José A. Caminal Montero, Luis Collado, Paz De Árgila, Diego Quiroga Colina, Patricia Vicente Rabaneda, Esther F. Triguero Martínez, Ana Rubio, Esteban León Luque, Manuel Blanco Madrigal, Juan María Galíndez Agirregoikoa, Eva Martín, Javier Gualillo, Oreste Blanco, Ricardo Castañeda, Santos González Gay, Miguel A. López Mejías, Raquel |
| author |
Liz, Joao Carlos Batista |
| author_facet |
Liz, Joao Carlos Batista Genre, Fernanda Pulito Cueto, Verónica Remuzgo Martínez, Sara Prieto Peña, Diana Márquez, Ana Ortego Centeno, Norberto Leonardo, María Teresa Peñalba, Ana Narváez, Javier Martín Penagos, Luis Belmar Vega, Lara Gómez Fernández, Cristina Miranda Filloy, José A. Caminal Montero, Luis Collado, Paz De Árgila, Diego Quiroga Colina, Patricia Vicente Rabaneda, Esther F. Triguero Martínez, Ana Rubio, Esteban León Luque, Manuel Blanco Madrigal, Juan María Galíndez Agirregoikoa, Eva Martín, Javier Gualillo, Oreste Blanco, Ricardo Castañeda, Santos González Gay, Miguel A. López Mejías, Raquel |
| author_role |
author |
| author2 |
Genre, Fernanda Pulito Cueto, Verónica Remuzgo Martínez, Sara Prieto Peña, Diana Márquez, Ana Ortego Centeno, Norberto Leonardo, María Teresa Peñalba, Ana Narváez, Javier Martín Penagos, Luis Belmar Vega, Lara Gómez Fernández, Cristina Miranda Filloy, José A. Caminal Montero, Luis Collado, Paz De Árgila, Diego Quiroga Colina, Patricia Vicente Rabaneda, Esther F. Triguero Martínez, Ana Rubio, Esteban León Luque, Manuel Blanco Madrigal, Juan María Galíndez Agirregoikoa, Eva Martín, Javier Gualillo, Oreste Blanco, Ricardo Castañeda, Santos González Gay, Miguel A. López Mejías, Raquel |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Polimorfisme genètic Vasculitis Genetic polymorphisms Vasculitis |
| topic |
Polimorfisme genètic Vasculitis Genetic polymorphisms Vasculitis |
| description |
CD40, BLK and BANK1 genes involved in the development and signaling of B-cells are identified as susceptibility loci for numerous inflammatory diseases. Accordingly, we assessed the potential influence of CD40, BLK and BANK1 on the pathogenesis of immunoglobulin-A vasculitis (IgAV), predominantly a B-lymphocyte inflammatory condition. Three genetic variants within CD40 (rs1883832, rs1535045, rs4813003) and BLK (rs2254546, rs2736340, rs2618476) as well as two BANK1 polymorphisms (rs10516487, rs3733197), previously associated with inflammatory diseases, were genotyped in 382 Caucasian patients with IgAV and 955 sex- and ethnically matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of CD40, BLK and BANK1 when IgAV patients and healthy controls were compared. Similar results were found when CD40, BLK and BANK1 genotypes or alleles frequencies were compared between patients with IgAV stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations. Moreover, no CD40, BLK and BANK1 haplotype differences were disclosed between patients with IgAV and healthy controls and between patients with IgAV stratified according to the clinical characteristics mentioned above. Our findings indicate that CD40, BLK and BANK1 do not contribute to the genetic background of IgAV. |
| publishDate |
2022 |
| dc.date.none.fl_str_mv |
2022 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/2445/190284 |
| url |
https://hdl.handle.net/2445/190284 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
Reproducció del document publicat a: https://doi.org/10.3390/jcm11195577 Journal of Clinical Medicine, 2022, vol. 11, issue. 19, p. 5577 https://doi.org/10.3390/jcm11195577 info:eu-repo/grantAgreement/EC/H2020/734899 |
| dc.rights.none.fl_str_mv |
cc by (c) Batista Liz, Joao Carlos et al., 2022 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
cc by (c) Batista Liz, Joao Carlos et al., 2022 http://creativecommons.org/licenses/by/3.0/es/ |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
application/pdf |
| dc.publisher.none.fl_str_mv |
MDPI AG |
| publisher.none.fl_str_mv |
MDPI AG |
| dc.source.none.fl_str_mv |
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) reponame:Dipòsit Digital de la UB instname:Universidad de Barcelona |
| instname_str |
Universidad de Barcelona |
| reponame_str |
Dipòsit Digital de la UB |
| collection |
Dipòsit Digital de la UB |
| repository.name.fl_str_mv |
|
| repository.mail.fl_str_mv |
|
| _version_ |
1869403358496817152 |
| score |
15,300719 |