title: Immunoglobulin enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker.
abstract: The 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.
authors.affiliation: Dipartamento Biologia E. Calef, Università di Roma Tor Vergata, Viale della ricerca scientifica, 00133 Rome, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Giambra
authors.forename: C
authors.initials: C
authors.lastname: Martínez-Labarga
authors.forename: M
authors.initials: M
authors.lastname: Giufré
authors.forename: D
authors.initials: D
authors.lastname: Modiano
authors.forename: J
authors.initials: J
authors.lastname: Simporé
authors.forename: B K
authors.initials: BK
authors.lastname: Gisladottir
authors.forename: R
authors.initials: R
authors.lastname: Francavilla
authors.forename: G
authors.initials: G
authors.lastname: Zhelezova
authors.forename: S S
authors.initials: SS
authors.lastname: Kilic
authors.forename: M
authors.initials: M
authors.lastname: Crawford
authors.forename: G
authors.initials: G
authors.lastname: Biondi
authors.forename: O
authors.initials: O
authors.lastname: Rickards
authors.forename: D
authors.initials: D
authors.lastname: Frezza
mesh_terms: D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D004742:Enhancer Elements, Genetic; D005787:Gene Frequency; D050438:Genes, Immunoglobulin Heavy Chain; D005819:Genetic Markers; D005828:Genetics, Population; D006801:Humans; D008957:Models, Genetic; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
chemical_list: D005819:Genetic Markers