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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Consanguinity, human evolution, and complex diseases
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Consanguinity, human evolution, and complex diseases

机译：血缘关系，人类进化和复杂疾病

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There is little information on inbreeding during the critical early years of human existence. However, given the small founding group sizes and restricted mate choices it seems inevitable that intrafamilial reproduction occurred and the resultant levels of inbreeding would have been substantial. Currently, couples related as second cousins or closer (F ≥ 0.0156) and their progeny account for an estimated 10.4% of the global population. The highest rates of consanguineous marriage occur in north and sub-Saharan Africa, the Middle East, and west, central, and south Asia. In these regions even couples who regard themselves as unrelated may exhibit high levels of homozygosity, because marriage within clan, tribe, caste, or biraderi boundaries has been a long-established tradition. Mortality in first-cousin progeny is ≈3.5% higher than in nonconsanguineous offspring, although demographic, social, and economic factors can significantly influence the outcome. Improving socioeconomic conditions and better access to health care will impact the effects of consanguinity, with a shift from infant and childhood mortality to extended morbidity. At the same time, a range of primarily social factors, including urbanization, improved female education, and smaller family sizes indicate that the global prevalence of consanguineous unions will decline. This shift in marriage patterns will initially result in decreased homozygosity, accompanied by a reduction in the expression of recessive single-gene disorders. Although the rales of common and rare gene variants in the etiology of complex disease remain contentious, it would be expected that declining consanguinity would also be reflected in reduced prevalence of complex diseases, especially in population isolates.
机译：在人类生存的关键早期，很少有关于近亲繁殖的信息。但是，鉴于创始群体的规模小和伴侣的选择受到限制，似乎不可避免地发生了家族内繁殖，因此近亲繁殖的水平将很高。目前，夫妻是近亲或近亲（F≥0.0156），其后代估计占全球人口的10.4％。近亲结婚率最高的地区是北撒哈拉以南非洲，中东以及西亚，中亚和南亚。在这些地区，甚至认为自己没有亲戚关系的夫妇也可能表现出很高的纯合性，因为在家族，部落，种姓或biraderi边界内的婚姻已由来已久。尽管人口，社会和经济因素会显着影响结局，但表亲后代的死亡率比非近缘后代的死亡率高约3.5％。社会经济条件的改善和更好的医疗服务将影响血缘关系，从婴儿和儿童死亡率向发病率的转变。同时，一系列主要的社会因素，包括城市化，改善的女性教育水平和较小的家庭规模，表明全球血缘工会的患病率将下降。婚姻方式的这种转变最初将导致纯合性降低，并伴有隐性单基因疾病的表达减少。尽管复杂疾病的病因学中常见和罕见基因变异的争议仍然存在，但可以预期，近亲血友病的减少也将反映在复杂疾病的流行率降低上，特别是在人群分离物中。

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