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Differential impact of consanguineous marriages on autosomal recessive diseases in T unisia
American journal of human biology, 2016-03, Vol.28 (2), p.171-180
Ben Halim, Nizar
Hsouna, Sana
Lasram, Khaled
Rejeb, Insaf
Walha, Asma
Talmoudi, Faten
Messai, Habib
Sabrine Ben Brick, Ahlem
Ouragini, Houyem
Cherif, Wafa
Nagara, Majdi
Rhouma, Faten Ben
Chouchene, Ibtissem
Ouechtati, Farah
Bouyacoub, Yosra
Ben Rekaya, Mariem
Messaoud, Olfa
Ben Ammar, Slim
El Matri, Leila
Tebib, Neji
Ben Dridi, Marie F.
Mokni, Mourad
Amouri, Ahlem
Kefi, Rym
Abdelhak, Sonia
2016
Volltextzugriff (PDF)
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Autor(en) / Beteiligte
Ben Halim, Nizar
Hsouna, Sana
Lasram, Khaled
Rejeb, Insaf
Walha, Asma
Talmoudi, Faten
Messai, Habib
Sabrine Ben Brick, Ahlem
Ouragini, Houyem
Cherif, Wafa
Nagara, Majdi
Rhouma, Faten Ben
Chouchene, Ibtissem
Ouechtati, Farah
Bouyacoub, Yosra
Ben Rekaya, Mariem
Messaoud, Olfa
Ben Ammar, Slim
El Matri, Leila
Tebib, Neji
Ben Dridi, Marie F.
Mokni, Mourad
Amouri, Ahlem
Kefi, Rym
Abdelhak, Sonia
Titel
Differential impact of consanguineous marriages on autosomal recessive diseases in T unisia
Ist Teil von
American journal of human biology, 2016-03, Vol.28 (2), p.171-180
Erscheinungsjahr
2016
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
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. Am. J. Hum. Biol. 28:171–180, 2016. © 2015 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1042-0533
eISSN: 1520-6300
DOI: 10.1002/ajhb.22764
Titel-ID: cdi_crossref_primary_10_1002_ajhb_22764
Format
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