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: | Consejo Superior de Investigaciones Científicas (CSIC) |
| Repositorio: | DIGITAL.CSIC. Repositorio Institucional del CSIC |
| OAI Identifier: | oai:digital.csic.es:10261/280389 |
| Acceso en línea: | http://hdl.handle.net/10261/280389 |
| Access Level: | acceso abierto |
| Palabra clave: | IgA vasculitis Henoch–Schönlein purpura CD40 BLK Polymorphisms |
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España |
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| 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 Batista-Liz, Joao Carlos IgA vasculitis Henoch–Schönlein purpura CD40 BLK Polymorphisms |
| 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 |
Batista-Liz, Joao Carlos 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, J. A. Caminal-Montero, Luis Collado, Paz Árgila, Diego de Quiroga, Patricia Vicente, Esther Triguero-Martínez, Ana Rubio, Esteban León Luque, Manuel Blanco-Madrigal, Juan María Galíndez-Agirregoikoa, E. Martín, Javier Gualillo, Oreste Blanco, Ricardo Castañeda, Santos González-Gay, Miguel A. López-Mejías, Raquel |
| author |
Batista-Liz, Joao Carlos |
| author_facet |
Batista-Liz, Joao Carlos 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, J. A. Caminal-Montero, Luis Collado, Paz Árgila, Diego de Quiroga, Patricia Vicente, Esther Triguero-Martínez, Ana Rubio, Esteban León Luque, Manuel Blanco-Madrigal, Juan María Galíndez-Agirregoikoa, E. 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, J. A. Caminal-Montero, Luis Collado, Paz Árgila, Diego de Quiroga, Patricia Vicente, Esther Triguero-Martínez, Ana Rubio, Esteban León Luque, Manuel Blanco-Madrigal, Juan María Galíndez-Agirregoikoa, E. 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.contributor.none.fl_str_mv |
European Commission Instituto de Salud Carlos III Xunta de Galicia Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72] |
| dc.subject.none.fl_str_mv |
IgA vasculitis Henoch–Schönlein purpura CD40 BLK Polymorphisms |
| topic |
IgA vasculitis Henoch–Schönlein purpura CD40 BLK Polymorphisms |
| 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 2022 2022 2022 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 Publisher's version info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/10261/280389 |
| url |
http://hdl.handle.net/10261/280389 |
| dc.language.none.fl_str_mv |
Inglés |
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Inglés |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Multidisciplinary Digital Publishing Institute |
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Multidisciplinary Digital Publishing Institute |
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reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC instname:Consejo Superior de Investigaciones Científicas (CSIC) |
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Consejo Superior de Investigaciones Científicas (CSIC) |
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DIGITAL.CSIC. Repositorio Institucional del CSIC |
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IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene PolymorphismsBatista-Liz, Joao CarlosGenre, FernandaPulito-Cueto, VerónicaRemuzgo-Martínez, SaraPrieto-Peña, DianaMárquez, AnaOrtego-Centeno, NorbertoLeonardo, María TeresaPeñalba, AnaNarváez, JavierMartín-Penagos, LuisBelmar-Vega, LaraGómez Fernández, CristinaMiranda-Filloy, J. A.Caminal-Montero, LuisCollado, PazÁrgila, Diego deQuiroga, PatriciaVicente, EstherTriguero-Martínez, AnaRubio, EstebanLeón Luque, ManuelBlanco-Madrigal, Juan MaríaGalíndez-Agirregoikoa, E.Martín, JavierGualillo, OresteBlanco, RicardoCastañeda, SantosGonzález-Gay, Miguel A.López-Mejías, RaquelIgA vasculitisHenoch–Schönlein purpuraCD40BLKPolymorphismsCD40, 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.This study was supported by European Union FEDER funds and “Fondo de Investigaciones Sanitarias” (grants PI18/00042 and PI21/00042) from “Instituto de Salud Carlos III” (ISCIII, Health Ministry, Spain). D.P.-P. is a recipient of a Río Hortega program fellowship from the ISCIII, co-funded by the European Social Fund (ESF, “Investing in your future”) (grant number CM20/00006). F.G. is supported by funds of the RICORS Program from ISCIII, co-funded by the European Union (grant number RD21/0002/0025). V.P.-C. is supported by funds of PI18/00042. S.R.-M. is supported by funds of the RETICS Program (RD16/0012/0009) (ISCIII, co-funded by the European Regional Development Fund (ERDF)). O.G. is a staff member of Xunta de Galicia (Servizo Galego de Saude (SERGAS)) through a research-staff stabilization contract (ISCIII/SERGAS) and his work is funded by ISCIII and the European Union FEDER fund (grant numbers RD16/0012/0014 (RIER) and PI17/00409). He is a beneficiary of project funds from the Research Executive Agency (REA) of the European Union in the framework of MSCA-RISE Action of the H2020 Program, project 734899—Olive-Net. R.L.-M. is a recipient of a Miguel Servet type II program fellowship from the ISCIII, co-funded by ESF (“Investing in your future”) (grant number CPII21/00004).Peer reviewedMultidisciplinary Digital Publishing InstituteEuropean CommissionInstituto de Salud Carlos IIIXunta de GaliciaConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]2022202220222022info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/280389reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Inglés#PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE#info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII)/PI18%2F00042info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 (ISCIII)/PI21%2F00042info:eu-repo/grantAgreement/MINECO//RD16%2F0012%2F0009info:eu-repo/grantAgreement/MINECO//RD16%2F0012%2F0014info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII)/PI17%2F00409info:eu-repo/grantAgreement/EC/H2020/734899https://doi.org/10.3390/jcm11195577Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/2803892026-05-22T06:33:51Z |
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