Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration
dc.contributor.author | Lolli, Serena | |
dc.contributor.author | Giambra, Vincenzo | |
dc.contributor.author | Cianci, Rossella | |
dc.contributor.author | Mattioli, Claudia | |
dc.contributor.author | Tampella, Giacomo | |
dc.contributor.author | Cattalini, Marco | |
dc.contributor.author | Pandolfi, Franco | |
dc.contributor.author | Plebani, Alessandro | |
dc.contributor.author | Frezza, Domenico | |
dc.contributor.buuauthor | Kılıç, Sara Şebnem | |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı. | tr_TR |
dc.contributor.orcid | 0000-0001-8571-2581 | tr_TR |
dc.contributor.researcherid | AAH-1658-2021 | tr_TR |
dc.contributor.scopusid | 34975059200 | tr_TR |
dc.date.accessioned | 2021-12-13T06:41:34Z | |
dc.date.available | 2021-12-13T06:41:34Z | |
dc.date.issued | 2009-12-15 | |
dc.description.abstract | Selective 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.sponsorship | University of Tor Vergata funding of Domenico Frezza MIUR PRIN (20073RH73W003) | en_US |
dc.identifier.citation | Giambra, 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.endpage | 8285 | tr_TR |
dc.identifier.issn | 0022-1767 | |
dc.identifier.issue | 12 | tr_TR |
dc.identifier.pubmed | 20007591 | tr_TR |
dc.identifier.scopus | 2-s2.0-76249103100 | tr_TR |
dc.identifier.startpage | 8280 | tr_TR |
dc.identifier.uri | https://doi.org/10.4049/jimmunol.0902426 | |
dc.identifier.uri | https://www.jimmunol.org/content/183/12/8280 | |
dc.identifier.uri | http://hdl.handle.net/11452/23187 | |
dc.identifier.volume | 183 | tr_TR |
dc.identifier.wos | 000272861300073 | tr_TR |
dc.indexed.pubmed | Pubmed | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.wos | SCIE | en_US |
dc.language.iso | en | en_US |
dc.publisher | Amer Assoc Immunologists | en_US |
dc.relation.collaboration | Yurt dışı | tr_TR |
dc.relation.journal | Journal of Immunology | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Common variable immunodeficiency | en_US |
dc.subject | Virtually identical enhancers | en_US |
dc.subject | Heavy-chain locus | en_US |
dc.subject | B-cells | en_US |
dc.subject | Regulatory region | en_US |
dc.subject | Histone modifications | en_US |
dc.subject | Increased frequency | en_US |
dc.subject | Hs1,2 enhancer | en_US |
dc.subject | Celiac-disease | en_US |
dc.subject | Immunoglobulin | en_US |
dc.subject | Immunology | en_US |
dc.subject.emtree | Immunoglobulin A | en_US |
dc.subject.emtree | Immunoglobulin G | en_US |
dc.subject.emtree | Immunoglobulin heavy chain | en_US |
dc.subject.emtree | Immunoglobulin M | en_US |
dc.subject.emtree | Adult | en_US |
dc.subject.emtree | Allele | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | DNA polymorphism | en_US |
dc.subject.emtree | Enhancer region | en_US |
dc.subject.emtree | Female | en_US |
dc.subject.emtree | Gene frequency | en_US |
dc.subject.emtree | Genetic variability | en_US |
dc.subject.emtree | Homozygosity | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Immunoglobulin A deficiency | en_US |
dc.subject.emtree | Immunoglobulin blood level | en_US |
dc.subject.emtree | Immunoglobulin production | en_US |
dc.subject.emtree | Major clinical study | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Pathogenesis | en_US |
dc.subject.emtree | Priority journal | en_US |
dc.subject.emtree | Adolescent | en_US |
dc.subject.emtree | Allele | en_US |
dc.subject.emtree | Blood | en_US |
dc.subject.emtree | Child | en_US |
dc.subject.emtree | Comparative study | en_US |
dc.subject.emtree | DNA flanking region | en_US |
dc.subject.emtree | Genetics | en_US |
dc.subject.emtree | Immunoglobulin gene | en_US |
dc.subject.emtree | Immunology | en_US |
dc.subject.emtree | Molecular genetics | en_US |
dc.subject.emtree | Nucleotide sequence | en_US |
dc.subject.emtree | Preschool child | en_US |
dc.subject.emtree | Regulatory sequence | en_US |
dc.subject.mesh | 3' flanking region | en_US |
dc.subject.mesh | Adolescent | en_US |
dc.subject.mesh | Alleles | en_US |
dc.subject.mesh | Base sequence | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Child, preschool | en_US |
dc.subject.mesh | Enhancer elements, genetic | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Gene frequency | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | IgA deficiency | en_US |
dc.subject.mesh | Immunoglobulin G | en_US |
dc.subject.mesh | Immunoglobulin heavy chains | en_US |
dc.subject.mesh | Immunoglobulin M | en_US |
dc.subject.mesh | Immunoglobulin switch region | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Molecular sequence data | en_US |
dc.subject.mesh | Regulatory sequences, nucleic acid | en_US |
dc.subject.mesh | Young adult | en_US |
dc.subject.scopus | Immunoglobulin Heavy Chains; Regulatory Sequences; AICDA (Activation-induced Cytidine Deaminase) | en_US |
dc.subject.wos | Immunology | en_US |
dc.title | Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration | en_US |
dc.type | Article | |
dc.wos.quartile | Q1 | en_US |