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Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey
Egyptian Journal of Medical Human Genetics Pub Date : 2024-03-05 , DOI: 10.1186/s43042-024-00490-w
Noura Dahbi , Abderrazak El khair , Khadija Cheffi , Lamiaa Habibeddine , Jalal Talbi , Abderraouf Hilali , Hicham El ossmani

Several studies showed that the perpetuation of consanguinity increases homozygosity and homogenizes the population's gene pool. This allows the expression of recessive deleterious mutations and increases the prevalence of genetic disorders and birth defects. Despite the reported negative health effects, consanguinity is still practiced in Morocco. This study aimed to evaluate the prevalence and socio-demographic determinants of consanguinity in the Souss region and to assess the association of this type of union with congenital disabilities and complex diseases. To meet this aim, a survey based on a cross-sectional approach was conducted between January 2019 and January 2020 among 520 randomly selected participants in the Souss region. The findings revealed a high prevalence of consanguinity of 28.46%, with first-cousin unions accounting for 16.15% of all marriages. According to multivariate logistic regression analysis, early age at first marriage, men’s occupation, endogamy, and parental consanguinity were predictive factors for consanguineous unions in the study population. Moreover, the results revealed a significant association between consanguinity and the incidence of physical disabilities (OR = 3.753; [95% CI 1.398–10.074]), mental retardation (OR = 5.219; [95% CI 1.545–17.631]), deafness-mutism (OR = 4.262; [95% CI 1.004–18.089]) and cardiovascular diseases (OR = 2.167; [95% CI 1.036–4.530]). However, no significant association was found between consanguinity and diabetes, cancer, asthma, epilepsy, and psychiatric disorders. Overall, our results suggest a high practice of consanguinity in the Souss population, associated with social, economic, and cultural factors. Consanguineous unions were associated with a high incidence of mental retardation, physical disabilities, deafness-mutism, and cardiovascular diseases. In this population, where marriage between relatives is highly preferred, awareness programs are not sufficient, and genetic studies on consanguinity-related diseases are necessary to provide specific premarital screening and thus increase the efficiency of genetic counseling.

中文翻译:

苏斯人口(摩洛哥南部)的血缘关系、复杂疾病和先天性残疾:一项横断面调查

多项研究表明,血缘关系的延续会增加纯合性并使种群基因库同质化。这使得隐性有害突变得以表达,并增加了遗传性疾病和出生缺陷的患病率。尽管有报道称对健康有负面影响,但摩洛哥仍然实行近亲结婚。本研究旨在评估苏斯地区近亲结婚的流行率和社会人口决定因素,并评估这种类型的结合与先天性残疾和复杂疾病的关系。为了实现这一目标,我们于 2019 年 1 月至 2020 年 1 月期间对苏斯地区随机选择的 520 名参与者进行了一项基于横断面方法的调查。调查结果显示,近亲结婚的比例高达28.46%,其中近亲结婚占所有婚姻的16.15%。根据多变量逻辑回归分析,初婚年龄早、男性职业、同族通婚和父母近亲结婚是研究人群近亲结婚的预测因素。此外,结果显示,近亲与身体残疾(OR = 3.753;[95% CI 1.398–10.074])、智力低下(OR = 5.219;[95% CI 1.545–17.631])、耳聋的发生率之间存在显着关联。沉默症(OR = 4.262;[95% CI 1.004–18.089])和心血管疾病(OR = 2.167;[95% CI 1.036–4.530])。然而,没有发现近亲结婚与糖尿病、癌症、哮喘、癫痫和精神疾病之间存在显着关联。总体而言,我们的研究结果表明,苏斯人口中存在高度的血缘关系,这与社会、经济和文化因素有关。近亲结婚与智力低下、身体残疾、聋哑和心血管疾病的高发病率有关。在这一人群中,近亲结婚的倾向很高,但认识计划还不够,有必要对近亲相关疾病进行遗传学研究,以提供具体的婚前筛查,从而提高遗传咨询的效率。
更新日期:2024-03-05
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