Souss 人口(摩洛哥南部)的近亲关系、复杂疾病和先天残疾:横断面调查

IF 1.2 Q4 GENETICS & HEREDITY 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
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引用次数: 0

摘要

一些研究表明,近亲结婚的延续会增加同源性,并使人口的基因库同质化。这使得隐性有害突变得以表达,增加了遗传疾病和先天缺陷的发病率。尽管有报告称近亲结婚对健康有负面影响,但在摩洛哥仍然存在。本研究旨在评估苏斯地区近亲结婚的普遍程度和社会人口决定因素,并评估这种结合方式与先天残疾和复杂疾病的关联。为实现这一目标,2019 年 1 月至 2020 年 1 月期间,在苏斯地区随机抽取的 520 名参与者中开展了一项基于横断面方法的调查。调查结果显示,近亲结婚率高达 28.46%,嫡亲结合占所有婚姻的 16.15%。根据多变量逻辑回归分析,初婚年龄过早、男性职业、内婚和父母血缘关系是研究人群近亲结婚的预测因素。此外,研究结果表明,近亲结婚与肢体残疾(OR = 3.753; [95% CI 1.398-10.074])、智力迟钝(OR = 5.219; [95% CI 1.545-17.631])、聋哑(OR = 4.262; [95% CI 1.004-18.089])和心血管疾病(OR = 2.167; [95% CI 1.036-4.530])的发病率有显著关联。然而,近亲结婚与糖尿病、癌症、哮喘、癫痫和精神疾病之间并无明显关联。总之,我们的研究结果表明,在苏斯人中,近亲结婚现象非常普遍,这与社会、经济和文化因素有关。近亲结婚与智力低下、肢体残疾、耳聋-畸形和心血管疾病的高发病率有关。在这一人群中,近亲结婚是非常普遍的现象,因此宣传计划还不够充分,有必要对近亲结婚相关疾病进行遗传学研究,以提供专门的婚前筛查,从而提高遗传咨询的效率。
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Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey
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.
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来源期刊
Egyptian Journal of Medical Human Genetics
Egyptian Journal of Medical Human Genetics Medicine-Genetics (clinical)
CiteScore
2.20
自引率
7.70%
发文量
150
审稿时长
18 weeks
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