Giambra, VincenzoMartinez, Labarga CristinaGiufre, MariaModiano, D.Simpore, JacquesGisladottir, B. K.Francavilla, R.Zhelezova, GalinaCrawford, M.Biondi, GianfrancoRickards, OlgaFrezza, Damon2021-10-192021-10-192006Giambra, V. vd. (2006). ''Immunoglobulin enhancer HS1,2 polymorphism: A new powerful anthropogenetic marker''. Annals of Human Genetics, 70(6), 946-950.0003-4800https://doi.org/10.1111/j.1469-1809.2006.00273.xhttps://onlinelibrary.wiley.com/doi/10.1111/j.1469-1809.2006.00273.xhttp://hdl.handle.net/11452/22410The 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.eninfo:eu-repo/semantics/closedAccessGenetics & heredityRegulatory regionImmunoglobulinesImmune-pathologiesHuman populationsHS1,2 Ig enhancerAllelic frequenciesDiseasesEvolutionPromotersPopulationIga nephropathyPolymorphism, geneticModels, geneticAfrican continental ancestry groupHumansGenetics, populationGenetic markersGenes, immunoglobulin heavy chainGene frequencyEuropean continental ancestry groupEnhancer elements, geneticEnhancer elements (genetics)Asian continental ancestry groupArticle0002411914000252-s2.0-3374955641094695070617044868Genetics & heredityImmunoglobulin Heavy Chains; Regulatory Sequences; AICDA (Activation-induced Cytidine Deaminase)Unclassified drugImmunoglobulin heavy chain 3' enhancer complex 1Immunoglobulin enhancer binding proteinTranscription regulationReliabilityPriority journalPopulation geneticsPolymerase chain reactionNucleotide sequenceMolecular geneticsImmunopathologyImmunoglobulin productionImmunoglobulin A nephropathyHumanGenetic variabilityGenetic polymorphismGenetic markerGene frequencyEuropeDermatitis herpetiformisControlled studyCeliac diseaseAsianArticleAlleleAfrica