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 |
| Fecha de publicación: | 2022 |
| País: | España |
| Institución: | Universidad de Cantabria (UC) |
| Repositorio: | UCrea Repositorio Abierto de la Universidad de Cantabria |
| Idioma: | inglés |
| OAI Identifier: | oai:repositorio.unican.es:10902/27884 |
| Acceso en línea: | https://hdl.handle.net/10902/27884 |
| Access Level: | acceso abierto |
| Palabra clave: | BANK1 BLK CD40 Henoch–Schönlein purpura IgA vasculitis Polymorphisms |
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oai:repositorio.unican.es:10902/27884 |
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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 BANK1 BLK CD40 Henoch–Schönlein purpura IgA vasculitis 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 Cabello, María Teresa Peñalba Citores, Ana Cristina Narváez, Javier Martín Penagos, Luis Belmar Vega, Lara Gómez Fernández, Cristina Miranda-Filloy, José A. Caminal-Montero, Luis Collado, Paz Árgila, Diego de Quiroga-Colina, Patricia Vicente-Rabaneda, Esther F. Triguero-Martínez, Ana González-Gay Mantecón, Miguel Ángel |
| 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 Cabello, María Teresa Peñalba Citores, Ana Cristina Narváez, Javier Martín Penagos, Luis Belmar Vega, Lara Gómez Fernández, Cristina Miranda-Filloy, José A. Caminal-Montero, Luis Collado, Paz Árgila, Diego de Quiroga-Colina, Patricia Vicente-Rabaneda, Esther F. Triguero-Martínez, Ana González-Gay Mantecón, Miguel Ángel |
| author_role |
author |
| author2 |
Genre, Fernanda Pulito Cueto, Verónica Remuzgo Martínez, Sara Prieto Peña, Diana Márquez, Ana Ortego-Centeno, Norberto Leonardo Cabello, María Teresa Peñalba Citores, Ana Cristina Narváez, Javier Martín Penagos, Luis Belmar Vega, Lara Gómez Fernández, Cristina Miranda-Filloy, José A. Caminal-Montero, Luis Collado, Paz Árgila, Diego de Quiroga-Colina, Patricia Vicente-Rabaneda, Esther F. Triguero-Martínez, Ana González-Gay Mantecón, Miguel Ángel |
| author2_role |
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 |
Universidad de Cantabria |
| dc.subject.none.fl_str_mv |
BANK1 BLK CD40 Henoch–Schönlein purpura IgA vasculitis Polymorphisms |
| topic |
BANK1 BLK CD40 Henoch–Schönlein purpura IgA vasculitis 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 2022-01-01 |
| dc.type.none.fl_str_mv |
journal article http://purl.org/coar/resource_type/c_6501 NA http://purl.org/coar/version/c_be7fb7dd8ff6fe43 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/10902/27884 |
| url |
https://hdl.handle.net/10902/27884 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ |
| eu_rights_str_mv |
openAccess |
| dc.publisher.none.fl_str_mv |
Multidisciplinary Digital Publishing Institute (MDPI) |
| publisher.none.fl_str_mv |
Multidisciplinary Digital Publishing Institute (MDPI) |
| dc.source.none.fl_str_mv |
Journal of Clinical Medicine 2022, 11, 5577 reponame:UCrea Repositorio Abierto de la Universidad de Cantabria instname:Universidad de Cantabria (UC) |
| instname_str |
Universidad de Cantabria (UC) |
| reponame_str |
UCrea Repositorio Abierto de la Universidad de Cantabria |
| collection |
UCrea Repositorio Abierto de la Universidad de Cantabria |
| repository.name.fl_str_mv |
|
| repository.mail.fl_str_mv |
|
| _version_ |
1869423105293680640 |
| spelling |
IgA vasculitis: influence of CD40, BLK and BANK1 gene polymorphismsBatista Liz, Joao CarlosGenre, FernandaPulito Cueto, VerónicaRemuzgo Martínez, SaraPrieto Peña, DianaMárquez, AnaOrtego-Centeno, NorbertoLeonardo Cabello, María TeresaPeñalba Citores, Ana CristinaNarváez, JavierMartín Penagos, LuisBelmar Vega, LaraGómez Fernández, CristinaMiranda-Filloy, José A.Caminal-Montero, LuisCollado, PazÁrgila, Diego deQuiroga-Colina, PatriciaVicente-Rabaneda, Esther F.Triguero-Martínez, AnaGonzález-Gay Mantecón, Miguel ÁngelBANK1BLKCD40Henoch–Schönlein purpuraIgA vasculitisPolymorphismsCD40, 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.Funding: 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). Acknowledgments: We are indebted to the patients and healthy controls for their essential collaboration on this study. We also thank the National DNA Bank Repository (Salamanca) for supplying part of the control samples.Multidisciplinary Digital Publishing Institute (MDPI)Universidad de Cantabria20222022-01-01journal articlehttp://purl.org/coar/resource_type/c_6501NAhttp://purl.org/coar/version/c_be7fb7dd8ff6fe43info:eu-repo/semantics/articlehttps://hdl.handle.net/10902/27884Journal of Clinical Medicine 2022, 11, 5577reponame:UCrea Repositorio Abierto de la Universidad de Cantabriainstname:Universidad de Cantabria (UC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositorio.unican.es:10902/278842026-06-02T12:39:31Z |
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15.301603 |