Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations

Autor: Sonia Abdelhak, Cristina Giuliani, Yosra Ben Halima, Marco Sazzini, Henda Jamoussi, Giovanni Romeo, Lotfi Chouchane, Sahar Elouej, Rym Kefi, Majdi Nagara, Donata Luiselli, Chokri Nouali, Abdelmajid Abid, Giacomo Mengozzi, Sara De Fanti
Přispěvatelé: Ben Halima, Yosra, Kefi, Rym, Sazzini, Marco, Giuliani, Cristina, De Fanti, Sara, Nouali, Chokri, Nagara, Majdi, Mengozzi, Giacomo, Elouej, Sahar, Abid, Abdelmajid, Jamoussi, Henda, Chouchane, Lotfi, Romeo, Giovanni, Abdelhak, Sonia, Luiselli, Donata, Université de Tunis - El Manar II, Université de Tunis El Manar (UTM), Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), University of Bologna, Institut National de Nutrition et de Technologie Alimentaire (Tunis) (INNTA), This work was supported in part by Italian National Grant PRIN 2010EL8TXP_006 to DL, the Tunisian Ministry of Public Health, the Ministry ofHigher Education and Scientific Research (LR11IPT05) and the E.C. Grant agreement no. 295097 for FP7 project GM-NCD-Inco (www.genomedika.org)., CENTRO INTERDIPARTIMENTALE ALMA MATER RESEARCH INSTITUTE ON GLOBAL CHALLENGES AND CLIMATE CHANGE (ALMA CLIMATE), DIPARTIMENTO DI BENI CULTURALI, DIPARTIMENTO DI SCIENZE BIOLOGICHE, GEOLOGICHE E AMBIENTALI, AREA MIN. 05 - Scienze biologiche, Da definire
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Genes & Nutrition, Vol 12, Iss 1, Pp 1-10 (2017)
Genes and Nutrition
Genes and Nutrition, BioMed Central, 2017, 12, pp.20. ⟨10.1186/s12263-017-0573-3⟩
Genes & Nutrition
Genes & nutrition, 12:20
ISSN: 1865-3499
Popis: none 15 si Background: The ability to digest lactose after weaning, namely, lactase persistence (LP), is encoded by polymorphisms in the MCM6 gene and varies widely in frequency among different human populations. Although, evolution of LP-related genetic variants was investigated in many groups of Sub-Saharan African, Middle Eastern, and European ancestry, only few studies have focused on populations from North Africa and no data are especially available from the Tunisian one. For this reason, there is an urgent need to investigate the frequency patterns at these loci in Tunisia since this adaptive trait is implicated in health. Methods: Forty SNPs covering the LCT/MCM6 genes and including the two functional variants − 13,910 C > T and − 22,018 G > A were genotyped in 117 Tunisian individuals using the Sequenom Mass Array technology. The observed nucleotide and haplotype patterns of variation were then compared with those of several African, European, and Mediterranean human groups for which comparable data were publicly available. Admixture analysis on a 5 Mb genomic region surrounding the LCT/MCM6 loci was also performed by extracting genotypes from a previously generated genome-wide dataset in order to deepen the reconstruction of the evolutionary history of these loci. Results: We found that lactase non-persistence (LNP)-related alleles and haplotypes were predominantly present in the examined population. A clear differentiation between Tunisian, African, and North European/North Italian samples was found, while the Tunisian population showed more genetic affinity to Central and South Italian groups. Conclusions: Our study provided a first report of LP-associated alleles and haplotypes in the Tunisian population. We highlighted a gradient followed by LP diffusion from Europe to North Africa. Based on the rich historic background of Tunisia, we suggest that this adaptive trait was introduced in that geographic region by a relatively recent gene flow. open Ben Halima, Yosra; Kefi, Rym; Sazzini, Marco; Giuliani, Cristina; De Fanti, Sara; Nouali, Chokri; Nagara, Majdi; Mengozzi, Giacomo; Elouej, Sahar; Abid, Abdelmajid; Jamoussi, Henda; Chouchane, Lotfi; Romeo, Giovanni; Abdelhak, Sonia; Luiselli, Donata Ben Halima, Yosra; Kefi, Rym; Sazzini, Marco; Giuliani, Cristina; De Fanti, Sara; Nouali, Chokri; Nagara, Majdi; Mengozzi, Giacomo; Elouej, Sahar; Abid, Abdelmajid; Jamoussi, Henda; Chouchane, Lotfi; Romeo, Giovanni; Abdelhak, Sonia; Luiselli, Donata
Databáze: OpenAIRE
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