Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration

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dc.contributor.authorLolli, Serena
dc.contributor.authorGiambra, Vincenzo
dc.contributor.authorCianci, Rossella
dc.contributor.authorMattioli, Claudia
dc.contributor.authorTampella, Giacomo
dc.contributor.authorCattalini, Marco
dc.contributor.authorPandolfi, Franco
dc.contributor.authorPlebani, Alessandro
dc.contributor.authorFrezza, Domenico
dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0001-8571-2581tr_TR
dc.contributor.researcheridAAH-1658-2021tr_TR
dc.contributor.scopusid34975059200tr_TR
dc.date.accessioned2021-12-13T06:41:34Z
dc.date.available2021-12-13T06:41:34Z
dc.date.issued2009-12-15
dc.description.abstractSelective IgA deficiency (IGAD) is the most common primary immunodeficiency, yet its pathogenesis is elusive. The IG (heavy) H chain human 3' Regulatory Region harbors three enhancers and has an important role In Ig synthesis. HS1.2 is the only polymorphic enhancer of the 3'RRs. We therefore evaluated HS1.2 allelic frequencies in 88 IGAD patients and 101 controls. Our data show that IGAD patients have a highly significant increase of homozygousity of the allele *1 (39% in the IGAD patients and 15% in controls), with an increase of 2.6-fold. Allele *4 has a similar trend of allele *2, both showing a significant decrease of frequency in IGAD. No relationship was observed between allele *1 frequencies and serum levels of IgG. However, allele *1 was associated in IGAD patients with relatively low lgM levels (within the 30th lowest percentile of patients). The HS1.2 polymorphism influences Ig seric production, but not IgG switch, in fact 30th lowest or highest percentile of IgG in patients did not associate to different frequencies of HS1.2 alleles. The control on normal healthy subjects did not correlate high or low levels of IgM or IgG with HS1.2 allelic frequence variation. Overall our candidate gene approach confirms that the study of polymorphisms in human diseases is a valid tool to investigate the function of these Regulatory Regions that confers multiple immune features.en_US
dc.description.sponsorshipUniversity of Tor Vergata funding of Domenico Frezza MIUR PRIN (20073RH73W003)en_US
dc.identifier.citationGiambra, V. vd. (2009). "Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration". Journal of Immunology, 183(12), 8280-8285.en_US
dc.identifier.endpage8285tr_TR
dc.identifier.issn0022-1767
dc.identifier.issue12tr_TR
dc.identifier.pubmed20007591tr_TR
dc.identifier.scopus2-s2.0-76249103100tr_TR
dc.identifier.startpage8280tr_TR
dc.identifier.urihttps://doi.org/10.4049/jimmunol.0902426
dc.identifier.urihttps://www.jimmunol.org/content/183/12/8280
dc.identifier.urihttp://hdl.handle.net/11452/23187
dc.identifier.volume183tr_TR
dc.identifier.wos000272861300073tr_TR
dc.indexed.pubmedPubmeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherAmer Assoc Immunologistsen_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.journalJournal of Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCommon variable immunodeficiencyen_US
dc.subjectVirtually identical enhancersen_US
dc.subjectHeavy-chain locusen_US
dc.subjectB-cellsen_US
dc.subjectRegulatory regionen_US
dc.subjectHistone modificationsen_US
dc.subjectIncreased frequencyen_US
dc.subjectHs1,2 enhanceren_US
dc.subjectCeliac-diseaseen_US
dc.subjectImmunoglobulinen_US
dc.subjectImmunologyen_US
dc.subject.emtreeImmunoglobulin Aen_US
dc.subject.emtreeImmunoglobulin Gen_US
dc.subject.emtreeImmunoglobulin heavy chainen_US
dc.subject.emtreeImmunoglobulin Men_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeAlleleen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeDNA polymorphismen_US
dc.subject.emtreeEnhancer regionen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGene frequencyen_US
dc.subject.emtreeGenetic variabilityen_US
dc.subject.emtreeHomozygosityen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeImmunoglobulin A deficiencyen_US
dc.subject.emtreeImmunoglobulin blood levelen_US
dc.subject.emtreeImmunoglobulin productionen_US
dc.subject.emtreeMajor clinical studyen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreePathogenesisen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeAdolescenten_US
dc.subject.emtreeAlleleen_US
dc.subject.emtreeBlooden_US
dc.subject.emtreeChilden_US
dc.subject.emtreeComparative studyen_US
dc.subject.emtreeDNA flanking regionen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeImmunoglobulin geneen_US
dc.subject.emtreeImmunologyen_US
dc.subject.emtreeMolecular geneticsen_US
dc.subject.emtreeNucleotide sequenceen_US
dc.subject.emtreePreschool childen_US
dc.subject.emtreeRegulatory sequenceen_US
dc.subject.mesh3' flanking regionen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAllelesen_US
dc.subject.meshBase sequenceen_US
dc.subject.meshChilden_US
dc.subject.meshChild, preschoolen_US
dc.subject.meshEnhancer elements, geneticen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene frequencyen_US
dc.subject.meshHumansen_US
dc.subject.meshIgA deficiencyen_US
dc.subject.meshImmunoglobulin Gen_US
dc.subject.meshImmunoglobulin heavy chainsen_US
dc.subject.meshImmunoglobulin Men_US
dc.subject.meshImmunoglobulin switch regionen_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular sequence dataen_US
dc.subject.meshRegulatory sequences, nucleic aciden_US
dc.subject.meshYoung adulten_US
dc.subject.scopusImmunoglobulin Heavy Chains; Regulatory Sequences; AICDA (Activation-induced Cytidine Deaminase)en_US
dc.subject.wosImmunologyen_US
dc.titleAllele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentrationen_US
dc.typeArticle
dc.wos.quartileQ1en_US

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