Immunoglobulin enhancer HS1,2 polymorphism: A new powerful anthropogenetic marker

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dc.contributor.authorGiambra, Vincenzo
dc.contributor.authorMartinez, Labarga Cristina
dc.contributor.authorGiufre, Maria
dc.contributor.authorModiano, D.
dc.contributor.authorSimpore, Jacques
dc.contributor.authorGisladottir, B. K.
dc.contributor.authorFrancavilla, R.
dc.contributor.authorZhelezova, Galina
dc.contributor.authorCrawford, M.
dc.contributor.authorBiondi, Gianfranco
dc.contributor.authorRickards, Olga
dc.contributor.authorFrezza, Damon
dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.tr_TR
dc.contributor.researcheridAAH-1658-2021tr_TR
dc.contributor.scopusid34975059200tr_TR
dc.date.accessioned2021-10-19T11:18:48Z
dc.date.available2021-10-19T11:18:48Z
dc.date.issued2006
dc.description.abstractThe human HS1,2 enhancer of the immunoglobulin (Ig) heavy chain 3' enhancer complex plays a central role in the regulation of Ig maturation and production. Four common alleles HS1,2-A*1, *2, *3, *4 are directly implicated with the transcription level and at least one of them, HS1, 2-A*2, seems to be related to immune disorders, such as coeliac disease, herpetiform dermatitis and Berger syndrome. Given their clinical significance it is of interest to know the distribution of HS1,2-A variants in populations from different continents, as well as to determine whether the polymorphism is associated to specific evolutionary factors. In this paper we report the distribution of the HS1,2-A polymorphism in 1098 individuals from various African, Asian and European populations. HS1,2-A*3 and HS1,2-A*4 alleles are at their highest frequencies among Africans, and HS1,2-A*2 is significantly lower in Africans in comparison with both Europeans and, to a lesser extent, Asians. Analysis of molecular variance of the allele frequencies indicates that the HS1,2-A polymorphism can be considered as a reliable anthropogenetic marker.en_US
dc.identifier.citationGiambra, V. vd. (2006). ''Immunoglobulin enhancer HS1,2 polymorphism: A new powerful anthropogenetic marker''. Annals of Human Genetics, 70(6), 946-950.en_US
dc.identifier.endpage950tr_TR
dc.identifier.issn0003-4800
dc.identifier.issue6tr_TR
dc.identifier.pubmed17044868tr_TR
dc.identifier.scopus2-s2.0-33749556410tr_TR
dc.identifier.startpage946tr_TR
dc.identifier.urihttps://doi.org/10.1111/j.1469-1809.2006.00273.x
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/10.1111/j.1469-1809.2006.00273.x
dc.identifier.urihttp://hdl.handle.net/11452/22410
dc.identifier.volume70tr_TR
dc.identifier.wos000241191400025tr_TR
dc.indexed.pubmedPubmeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalAnnals of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGenetics & heredityen_US
dc.subjectRegulatory regionen_US
dc.subjectImmunoglobulinesen_US
dc.subjectImmune-pathologiesen_US
dc.subjectHuman populationsen_US
dc.subjectHS1,2 Ig enhanceren_US
dc.subjectAllelic frequenciesen_US
dc.subjectDiseasesen_US
dc.subjectEvolutionen_US
dc.subjectPromotersen_US
dc.subjectPopulationen_US
dc.subjectIga nephropathyen_US
dc.subject.emtreeUnclassified drugen_US
dc.subject.emtreeImmunoglobulin heavy chain 3' enhancer complex 1en_US
dc.subject.emtreeImmunoglobulin enhancer binding proteinen_US
dc.subject.emtreeTranscription regulationen_US
dc.subject.emtreeReliabilityen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreePopulation geneticsen_US
dc.subject.emtreePolymerase chain reactionen_US
dc.subject.emtreeNucleotide sequenceen_US
dc.subject.emtreeMolecular geneticsen_US
dc.subject.emtreeImmunopathologyen_US
dc.subject.emtreeImmunoglobulin productionen_US
dc.subject.emtreeImmunoglobulin A nephropathyen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeGenetic variabilityen_US
dc.subject.emtreeGenetic polymorphismen_US
dc.subject.emtreeGenetic markeren_US
dc.subject.emtreeGene frequencyen_US
dc.subject.emtreeEuropeen_US
dc.subject.emtreeDermatitis herpetiformisen_US
dc.subject.emtreeControlled studyen_US
dc.subject.emtreeCeliac diseaseen_US
dc.subject.emtreeAsianen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeAlleleen_US
dc.subject.emtreeAfricaen_US
dc.subject.meshPolymorphism, geneticen_US
dc.subject.meshModels, geneticen_US
dc.subject.meshAfrican continental ancestry groupen_US
dc.subject.meshHumansen_US
dc.subject.meshGenetics, populationen_US
dc.subject.meshGenetic markersen_US
dc.subject.meshGenes, immunoglobulin heavy chainen_US
dc.subject.meshGene frequencyen_US
dc.subject.meshEuropean continental ancestry groupen_US
dc.subject.meshEnhancer elements, geneticen_US
dc.subject.meshEnhancer elements (genetics)en_US
dc.subject.meshAsian continental ancestry groupen_US
dc.subject.scopusImmunoglobulin Heavy Chains; Regulatory Sequences; AICDA (Activation-induced Cytidine Deaminase)en_US
dc.subject.wosGenetics & heredityen_US
dc.titleImmunoglobulin enhancer HS1,2 polymorphism: A new powerful anthropogenetic markeren_US
dc.typeArticle
dc.wos.quartileQ2en_US

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