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ISCIII","doi-asserted-by":"publisher","award":["FI22\/00020"],"award-info":[{"award-number":["FI22\/00020"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Miguel Servet type II program fellowship from the ISCIII","doi-asserted-by":"publisher","award":["PI121\/00042"],"award-info":[{"award-number":["PI121\/00042"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Miguel Servet type II program fellowship from the ISCIII","doi-asserted-by":"publisher","award":["CPII21\/00004"],"award-info":[{"award-number":["CPII21\/00004"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>ITGAM\u2013ITGAX (rs11150612, rs11574637), VAV3 rs17019602, CARD9 rs4077515, DEFA (rs2738048, rs10086568), and HORMAD2 rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA production, described as risk loci for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (IgAV) share molecular mechanisms, with the aberrant deposit of IgA1 being the main pathophysiologic feature of both entities, we assessed the potential influence of the seven abovementioned polymorphisms on IgAV pathogenesis. These seven variants were genotyped in 381 Caucasian IgAV patients and 997 matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of these seven polymorphisms when the whole cohort of IgAV patients and those with nephritis were compared to controls. Similar genotype and allele frequencies of all polymorphisms were disclosed when IgAV patients were stratified according to the age at disease onset or the presence\/absence of gastrointestinal or renal manifestations. Likewise, no ITGAM\u2013ITGAX and DEFA haplotype differences were observed when the whole cohort of IgAV patients, along with those with nephritis and controls, as well as IgAV patients, stratified according to the abovementioned clinical characteristics, were compared. Our results suggest that mucosal immune defence polymorphisms do not represent novel genetic risk factors for IgAV pathogenesis.<\/jats:p>","DOI":"10.3390\/ijms241713063","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T08:58:54Z","timestamp":1692694734000},"page":"13063","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?"],"prefix":"10.3390","volume":"24","author":[{"given":"Joao Carlos","family":"Batista-Liz","sequence":"first","affiliation":[{"name":"Immunopathology Group, Rheumatology Department, Hospital Universitario Marqu\u00e9s de Valdecilla-IDIVAL, 39011 Santander, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanesa","family":"Calvo-R\u00edo","sequence":"additional","affiliation":[{"name":"Immunopathology Group, Rheumatology Department, Hospital Universitario Marqu\u00e9s de Valdecilla-IDIVAL, 39011 Santander, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Sebasti\u00e1n Mora-Gil","sequence":"additional","affiliation":[{"name":"Immunopathology Group, Rheumatology Department, Hospital Universitario Marqu\u00e9s de Valdecilla-IDIVAL, 39011 Santander, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bel\u00e9n","family":"Sevilla-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Hospital Universitario San Cecilio, 18016 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"M\u00e1rquez","sequence":"additional","affiliation":[{"name":"Instituto de Parasitolog\u00eda y Biomedicina \u2018L\u00f3pez-Neyra\u2019, CSIC, PTS Granada, 18016 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Teresa","family":"Leonardo","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Hospital Universitario Marqu\u00e9s de Valdecilla, 39008 Santander, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Pe\u00f1alba","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Hospital Universitario Marqu\u00e9s de Valdecilla, 39008 Santander, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1427-7639","authenticated-orcid":false,"given":"Francisco David","family":"Carmona","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda, Centro de Investigaci\u00f3n Biom\u00e9dica (CIBM), Universidad de Granada, 18071 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. 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