Linkage disequilibrium between HLA-G*0104 and HLA-E*0103 alleles in Tswa Pygmies.

Julie Di Cristofaro (1) , Stephan Buhler (1, 2, 3) , Céline Baier (1, 2) , Coralie Frassati (2) , Amelia Dzia Lepfoundzou , Vital Galicher (1, 2) , Agnès Basire (1, 2) , Jacques Chiaroni (1) , Christophe Picard (1)

1 UAABC - Anthropologie Bio-Culturelle
2 EFS - Alpes-Méditerranée - Etablissement Français du Sang - Alpes-Méditerranée
3 Laboratory of Anthropoplogy, Genetics and Peopling History

Nonclassical human leukocyte antigen (HLA)-G and -E loci are separated by approximately 660 kb on the short arm of chromosome 6. Interestingly, some functional and expression characteristics are relatively identical or associated for both molecules. For example, expression of HLA-E on the cell surface has been linked to preferential binding of nonameric leader peptides derived from the signal sequence of HLA-G. It has been suggested that these two molecules act synergistically in modulating susceptibility to infectious or chronic inflammatory diseases. A possible explanation for these observations is that HLA-E and HLA-G are evolving under analogous selective pressures and have functions that place them under selective regimes differing from classical HLA genes. The purpose of this study was to investigate the consistency of this hypothesis based on the characterization of the molecular polymorphism of these two genes and their linkage disequilibrium (LD) in three populations, i.e. Southeastern French (n = 57), Teke Congolese (n = 84) and Tswa Pygmies (n = 74). Allelic frequencies observed for HLA-G and HLA-E and for 14-bp ins/del polymorphism in the three populations were similar to those observed in the literature for populations from corresponding geographic areas. Only one of the recently described HLA-G polymorphisms (HLA-G*01:07-01:16) was found, i.e. HLA-G*01:15 in one individual from Congo. We showed that two haplotypes in Tswa Pygmies, i.e. HLA-G*01:04-E*01:03:01 and G*01:04-E*01:01, exhibited highly significant positive and negative D' values respectively. Although these LD could have functional implications, it is more likely because of the genetic drift as the two other populations did not display any significant LD.

Mots clés: African Continental Ancestry Group/ethnology; African Continental Ancestry Group/genetics; Alleles; Congo/ethnology; Dwarfism/ethnology; Dwarfism/genetics; European Continental Ancestry Group/genetics; France; Gene Frequency; HLA Antigens/genetics; HLA-G Antigens; Histocompatibility Antigens Class I/genetics; Humans; INDEL Mutation; Linkage Disequilibrium; Polymorphism; Single Nucleotide; Population Groups/genetics

Domaines: Anthropologie biologique

Julie Di Cristofaro, Stephan Buhler, Céline Baier, Coralie Frassati, Amelia Dzia Lepfoundzou, et al.. Linkage disequilibrium between HLA-G*0104 and HLA-E*0103 alleles in Tswa Pygmies.. 2010. ⟨halshs-00739718⟩