doi: 10.1111/j.1529-8817.2006.00273.xSHORT COMMUNICATIONS Immunoglobulin Enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker

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