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

Summary The human HS1,2 enhancer of the immunoglobulin (Ig) heavy chain 3 enhancer complex plays a central role inthe regulation of Ig maturation and production. Four common alleles HS1,2-A ∗ 1, ∗ 2, ∗ 3, ∗ 4 are directly implicatedwith the transcription level and at least one of them, HS1, 2-A ∗ 2, seems to be related to immune disorders, suchas coeliac disease, herpetiform dermatitis and Berger syndrome. Given their clinical significance it is of interestto know the distribution of HS1,2-A variants in populations from different continents, as well as to determinewhether the polymorphism is associated to specific evolutionary factors. In this paper we report the distribution ofthe HS1,2-A polymorphism in 1098 individuals from various African, Asian and European populations. HS1,2-A ∗ 3and HS1,2-A ∗ 4 alleles are at their highest frequencies among Africans, and HS1,2-A ∗ 2 is significantly lower inAfricans in comparison with both Europeans and, to a lesser extent, Asians. Analysis of molecular variance of theallele frequencies indicates that the HS1,2-A polymorphism can be considered as a reliable anthropogenetic marker.Keywords: HS1,2Igenhancer,regulatoryregion,Immunoglobulines,Immune-pathologies,humanpopulations,allelic frequencies