Immunoglobulin enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker.

Giambra V., Martinez-Labarga C., Giufre M., Modiano D., Simpore J., Gisladottir B. K. , ...More

Annals of human genetics, vol.70, no.Pt 6, pp.946-50, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 70 Issue: Pt 6
  • Publication Date: 2006
  • Doi Number: 10.1111/j.1469-1809.2006.00273.x
  • Journal Name: Annals of human genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.946-50
  • Keywords: HS1,2 Ig enhancer, regulatory region, immunoglobulines, immune-pathologies, human populations, allelic frequencies, IGA NEPHROPATHY, POPULATION, PROMOTERS, EVOLUTION, DISEASES
  • Bursa Uludag University Affiliated: Yes


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.