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Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations

Public Health is the employer of: Abdelmajid Abid, Henda Jamoussi, affiliated with the National Institute of Nutrition and Food Technology, and Sonia Abdelhak and Rym Kefi, affiliated with the Institut ... College in Qatar for their help. Author Contributions Conceptualization: Haifa Jmel, Lilia Romdhane, Sonia Abdelhak, Rym Kefi. Data curation: Haifa Jmel, Chokri Naouali, Jingxuan Shan, Lotfi Chouchane

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

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...

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

Background Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogenic populations and ethnic groups such as Phoenicians, Romans, Vandals, Arabs, Ottomans and French. Like neighbouring and Middle Eastern countries, the Tunisian...

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated...

Adult gaucher disease in southern Tunisia: report of three cases

Background Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age...