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. 2024 Feb 29;17(1):65.
doi: 10.1186/s12920-024-01821-x.

Contribution of HLA class I (A, B, C) and HLA class II (DRB1, DQA1, DQB1) alleles and haplotypes in exploring ethnic origin of central Tunisians

Affiliations

Contribution of HLA class I (A, B, C) and HLA class II (DRB1, DQA1, DQB1) alleles and haplotypes in exploring ethnic origin of central Tunisians

Amène Ben Bnina et al. BMC Med Genomics. .

Abstract

Background: Estimation of HLA (Human leukocyte Antigen) alleles' frequencies in populations is essential to explore their ethnic origin. Anthropologic studies of central Tunisian population were rarely reported. Then, in this work, we aimed to explore the origin of central Tunisian population using HLA alleles and haplotypes frequencies.

Methods: HLA class I (A, B, C) and HLA class II (DRB1, DQA1, DQB1) loci genotyping of 272 healthy unrelated organ donors was performed by Polymerase Chain Reaction-Sequence Specific Oligonucleotide (PCR-SSO). We compared central Tunisians with other populations (Arabs, Berbers, Mediterraneans, Europeans, Africans, etc.) using alleles and haplotypes frequencies, genetic distances, Neighbour-Joining dendrogram and correspondence analysis.

Results: Among the 19 HLA A alleles, the 26 HLA B alleles, the 13 HLA C alleles, the 15 HLA DRB1 alleles, the 6 HLA DQA1 alleles and the 5 HLA DQB1 alleles identified in the studied population, HLA A*02 (22.8%), HLA B*50 (13.1%), HLA C*06 (21.8%), HLA DRB1*07 (17.8%), HLA DQA1*01 (32.1%) and HLA DQB1*03 (31.6%) were the most frequent alleles. The extended haplotypes HLA A*02-B*50-C*06-DRB1*07-DQA1*02-DQB1*02 (1.97%) was the most frequent HLA six-loci haplotype.

Conclusion: Central Tunisians were very close to other Tunisian populations, to Iberians and North Africans. They were rather distant from sub-Saharan populations and eastern Mediterraneans especially Arabs although the strong cultural and religious impact of Arabs in this population.

Keywords: Anthropology; Genetic polymorphism; Haplotypes; Human leukocyte Antigen (HLA).

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Map showing the central Tunisian governorates included in this study
Fig. 2
Fig. 2
Neighbor-Joining dendrogram showing relatedness between central Tunisians and other populations using generic genotyping of HLA-DQB1 and HLA-DRB1. Standard genetic distances (SGD) between populations were determined. Populations’ data are from references detailed in Table 1. Bootstrap values from 1.000 replicates are shown
Fig. 3
Fig. 3
Neighbor-Joining dendrogram showing relatedness between central Tunisians and other populations using generic genotyping of HLA-A and HLA-B. Standard genetic distances (SGD) between populations were determined. Populations’ data are from references detailed in Table 1. Bootstrap values from 1.000 replicates are shown
Fig. 4
Fig. 4
Correspondence analysis (bi-dimensional representation) based on the standard genetic distances, showing a global view of the relationship between central Tunisians and other Mediterranean populations according to HLA DRB1, and HLA DQB1 allele frequencies data

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