Consanguinty and its impact on health and genome dynamic: An example from Tunisia

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Published May 12, 2024
https://doi.org/10.62438/tunismed.v102i5.4787
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Vol. 102 No. 5 (2024): Tunis med may 2024

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Nessrine Mezzi
Biomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Department of Life Sciences, Faculty of Sciences of Bizerte, University of Carthage, Tunisia
https://orcid.org/0000-0002-0520-5078
Najla Abassi
Biomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Tunisia
Faten Fatnassi
Biomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Tunisia
Sonia Abdelhak
Biomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Tunisia
Lilia Romdhane
Biomedical Genomics and Oncogenetics Laboratory. Institut Pasteur de Tunis, University of Tunis El Manar, Department of Life Sciences, Faculty of Sciences of Bizerte, University of Carthage, Tunisia
https://orcid.org/0000-0001-5310-7272

Abstract

The genetic disease spectrum in Tunisia arises from the founder effect, genetic drift, selection, and consanguinity. The latter represents a deviation from panmixia, characterized by a non-random matrimonial choice that may be subject to several rules, such as socio-cultural, economic, or other factors. This shifts the genetic structure away from the Hardy-Weinberg equilibrium, increasing homozygous genotypes and decreasing heterozygotes, thus raising the frequency of autosomal recessive diseases. Similar to other Arab populations, Tunisia displays high consanguinity rates that vary geographically. Approximately 60% of reported diseases in Tunisia are autosomal recessive, with consanguinity possibly occurring in 80% of families for a specific disease. In inbred populations, consanguinity amplifies autosomal recessive disease risk, yet it does not influence autosomal dominant disease likelihood but rather impacts its phenotype. Consanguinity is also suggested to be a major factor in the homozygosity of deleterious variants leading to comorbid expression. At the genome level, inbred individuals inherit homozygous mutations and adjacent genomic regions known as runs of homozygosity (ROHs). Short ROHs indicate distant inbreeding, while long ROHs refer to recent inbreeding. ROHs are distributed rather irregularly across the genome, with certain short regions featuring an excess of ROH, known as ROH islands. In this review, we discuss consanguinity's impact on population health and genome dynamics, using Tunisia as a model.

Keywords:

Consanguinity , Endogamy, Health, Genetic diseases, Genome structure, Runs of homozygosity, Tunisia

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