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Population-genetic influences on genomic estimates of the inbreeding coefficient: A global perspective

机译：种群遗传对近交系数的基因组估计的影响：全球视角

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Background/Aims: Culturally driven marital practices provide a key instance of an interaction between social and genetic processes in shaping patterns of human genetic variation, producing, for example, increased identity by descent through consanguineous marriage. A commonly used measure to quantify identity by descent in an individual is the inbreeding coefficient, a quantity that reflects not only consanguinity, but also other aspects of kinship in the population to which the individual belongs. Here, in populations worldwide, we examine the relationship between genomic estimates of the inbreeding coefficient and population patterns in genetic variation. Methods: Using genotypes at 645 microsatellites, we compare inbreeding coefficients from 5,043 individuals representing 237 populations worldwide to demographic consanguinity frequency estimates available for 26 populations as well as to other quantities that can illuminate population-genetic influences on inbreeding coefficients. Results: We observe higher inbreeding coefficient estimates in populations and geographic regions with known high levels of consanguinity or genetic isolation and in populations with an increased effect of genetic drift and decreased genetic diversity with increasing distance from Africa. For the small number of populations with specific consanguinity estimates, we find a correlation between inbreeding coefficients and consanguinity frequency (r = 0.349, p = 0.040). Conclusions: The results emphasize the importance of both consanguinity and population-genetic factors in influencing variation in inbreeding coefficients, and they provide insight into factors useful for assessing the effect of consanguinity on genomic patterns in different populations.
机译：背景/目的：文化驱动的婚姻习俗在塑造人类遗传变异的模式中提供了社会过程和遗传过程之间相互作用的一个关键实例，例如，通过近亲结婚通过世系产生了更多的身份。近亲繁殖系数是衡量个体后裔身份的常用方法，近亲繁殖系数不仅反映血亲关系，还反映出个体所属血统的其他方面。在这里，我们研究了世界范围内的近亲繁殖系数的基因组估计值与遗传变异中种群模式之间的关系。方法：使用645个微卫星的基因型，我们比较了代表全球237个种群的5,043个个体的近交系数，可用于26个种群的人口血缘频率估计值以及其他可以阐明种群遗传对近交系数影响的数量。结果：我们观察到在具有高度血缘关系或遗传隔离的已知水平的种群和地理区域，以及随着与非洲的距离增加，遗传漂移效应增加且遗传多样性降低的种群中，近交系数估计更高。对于少数具有特定血缘估计数的种群，我们发现近亲繁殖系数与血缘频率之间存在相关性（r = 0.349，p = 0.040）。结论：研究结果强调了血缘关系和种群遗传因素在影响近交系数变异中的重要性，并且它们为了解有助于评估血缘关系对不同人群基因组模式影响的因素提供了见识。

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