A recent genetic study conducted with the Tunisian population and compared to eleven other populations reveals significant discoveries on the diversity and genetic structure of this region.
Using the algorithm “Canary”, the scientific team, mostly of Tunisians, analyzed the polymorphisms of number of copies (CNP) in 102 Tunisian individuals as well as in 991 individuals from various populations of the HAPMAP III project.
The results of this research, published in the prestigious scientific review Nature show that African sub -Saharan populations have the greatest genetic diversity, with a high prevalence of allelic CNP. On the other hand, Tunisia is distinguished by a lesser genetic diversity.
The analysis of population structures reveals a strong European component among Tunisians, with more modest contributions from sub -Saharan Africa and Asia. This genetic proximity to Europe contrasts with a more marked distance from African and East-Asian sub-Saharan genetic clusters.
Among the most striking discoveries, seven genes with high frequency CNP in Tunisians have been identified as being associated with nine Mendelian diseases and/or phenotypes. In addition, the functional analysis of the selected genes highlights a significant enrichment of the biological processes linked to the receptor routes and the metabolism of glutathione.
Genetic paths associated with health concerns such as drug metabolism, infectious diseases and cancers also show notable enrichment.
These results suggest that Tunisian genetic diversity is the product of a combination of factors, including natural selection and genetic drift. They highlight the importance of examining in depth the genetic organization specific to this population and reveal the so far neglected aspects of the genome.
