Differential impact of consanguineous marriages on autosomal recessive diseases in T unisia
Rattachement africain : Tunisie. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
OBJECTIVES: Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autosomal recessive disorders and consider how other factors, such as population substructure and mutation frequency, may be of equal importance in disease prevalence. METHODS: Consanguinity profiles were retrospectively studied among 425 Tunisian patients suffering from autosomal recessive xeroderma pigmentosum, dystrophic epidermolysis bullosa, nonsyndromic retinitis pigmentosa, Gaucher disease, Fanconi anemia, glycogenosis type I, and ichthyosis, and compared to those of a healthy control sample. RESULTS: Consanguinity was observed in 341 cases (64.94%). Consanguinity rates per disease were 75.63, 63.64, 60.64, 61.29, 57.89, 73.33, and 51.28%, respectively. First-cousin marriages were the most common form of consanguinity (48.94%) with the percentages of 55.46, 45.46, 47.87, 48.39, 45.61, 56.66, and 35.90%, respectively. A very high level of geographic endogamy was also observed (93.92%), with the values by disease ranging between 75.86 and 96.64%. We observed an overall excess risk associated to consanguinity of nearly sevenfold which was proportional to the number of affected siblings and the frequency of disease allele in the family. Consanguinity was significantly associated with the first five cited diseases (odds ratio = 24.41, 15.17, 7.5, 5.53, and 5.07, respectively). However, no meaningful effects were reported among the remaining diseases. CONCLUSIONS: This study reveals a variation in the excess risk linked to consanguinity according to the type of disorder, suggesting the potential of cryptic population substructure to contribute to disease incidence in populations with complex social structure like Tunisia. It also emphasizes the role of other health and demographic aspects such as mutation frequency and reproductive replacement in diseases etiology.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- Differential impact of consanguineous marriages on autosomal recessive diseases in <scp>T</scp>unisia
- Date Crossref
- 16/07/2015
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Institut Pasteur de Tunis Department of Histology and Cytogenetics Institut Pasteur de Tunis, Tunisie (code pays fourni par la source)Structure de recherche
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Hôpital La Rabta Tunisie (code pays fourni par la source)Établissement de santé
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Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05 Tunis, Tunisie (pays nommé en fin d’affiliation)Structure de recherche
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Oculogenetics Research Unit Hedi Rais Institute of Ophthalmology Tunis 1006 Tunisia Tunis, Tunisie (pays nommé en fin d’affiliation)Structure de recherche
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Clinical Biochemistry Laboratory Institut Pasteur de Tunis, Tunisie (pays nommé en fin d’affiliation)Structure de recherche
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Pediatric Department La Rabta Hospital Jebbari 1007 Tunis Tunisia Pediatric Department Tunis, Tunisie (pays nommé en fin d’affiliation)Établissement de santé
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Department of Dermatology La Rabta Hospital Jebbari 1007 Tunis Tunisia Tunis, Tunisie (pays nommé en fin d’affiliation)Établissement de santé
Department of Histology and Cytogenetics — Institut Pasteur de Tunis (Institut Pasteur de Tunis, Tunisie), Hôpital La Rabta (Tunisie) et Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05 (Tunis, Tunisie), avec 4 autres affiliations. Pays d’affiliation : Tunisie.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.