Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
School of Electrical & Information Engineering, University of the Witwatersrand, Johannesburg, South Africa.
Nat Commun. 2020 Nov 13;11(1):5754. doi: 10.1038/s41467-020-19595-y.
The analysis of the effects of autozygosity, measured as the change of the mean value of a trait among offspring of genetic relatives, reveals the existence of directional dominance or overdominance. In this study we detect evidence of the effect of autozygosity in 4 out of 13 cardiometabolic disease-associated traits using data from more than 10,000 sub-Saharan African individuals recruited from Ghana, Burkina Faso, Kenya and South Africa. The effect of autozygosity on these phenotypes is found to be sex-related, with inbreeding having a significant decreasing effect in men but a significant increasing effect in women for several traits (body mass index, subcutaneous adipose tissue, low-density lipoproteins and total cholesterol levels). Overall, the effect of inbreeding depression is more intense in men. Differential effects of inbreeding depression are also observed between study sites with different night-light intensity used as proxy for urban development. These results suggest a directional dominant genetic component mediated by environmental interactions and sex-specific differences in genetic architecture for these traits in the Africa Wits-INDEPTH partnership for Genomic Studies (AWI-Gen) cohort.
对自交作用（即遗传亲属后代中特征平均值的变化）的影响分析表明，存在方向显性或超显性。在这项研究中，我们使用来自加纳、布基纳法索、肯尼亚和南非的 10000 多名撒哈拉以南非洲个体的数据，在 13 个与心血管代谢疾病相关的特征中检测到了自交作用的影响。自交作用对这些表型的影响与性别有关，在男性中，近交有显著的降低作用，但在女性中，近交对几种特征（体重指数、皮下脂肪组织、低密度脂蛋白和总胆固醇水平）有显著的升高作用。总体而言，近交衰退的影响在男性中更为强烈。在不同的夜间光照强度（用作城市发展的替代指标）的研究地点之间也观察到了近交衰退的差异影响。这些结果表明，在非洲威特斯-深入合作基因组研究（AWI-Gen）队列中，存在由环境相互作用和遗传结构性别特异性差异介导的这些特征的方向显性遗传成分。
