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Immunoglobulin Enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker
Author(s) -
Giambra V.,
MartínezLabarga C.,
Giufre' M.,
Modiano D.,
Simpore' J.,
Gisladottir B. K.,
Francavilla R.,
Zhelezova G.,
Kilic S. S.,
Crawford M.,
Biondi G.,
Rickards O.,
Frezza D.
Publication year - 2006
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2006.00273.x
Subject(s) - biology , allele , genetics , enhancer , gene , transcription factor
Summary 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.