Cole Joanne B, Manyama Mange F, Nikitovic Dejana, Gonzalez Paula N, Liberton Denise K, Wilson Warren M, Rolian Campbell, Larson Jacinda R, Kimwaga Emmanuel, Mathayo Joshua, Roseman Charles C, Santorico Stephanie A, Lukowiak Ken, Spritz Richard A, Hallgrimsson Benedikt
Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, USA.
Weill-Cornell Medicine-Qatar, Doha, Qatar.
J Anat. 2018 Feb;232(2):250-262. doi: 10.1111/joa.12748. Epub 2017 Nov 28.
Variation in the shape of the human face and in stature is determined by complex interactions between genetic and environmental influences. One such environmental influence is malnourishment, which can result in growth faltering, usually diagnosed by means of comparing an individual's stature with a set of age-appropriate standards. These standards for stature, however, are typically ascertained in groups where people are at low risk for growth faltering. Moreover, genetic differences among populations with respect to stature are well established, further complicating the generalizability of stature-based diagnostic tools. In a large sample of children aged 5-19 years, we obtained high-resolution genomic data, anthropometric measures and 3D facial images from individuals within and around the city of Mwanza, Tanzania. With genome-wide complex trait analysis, we partitioned genetic and environmental variance for growth outcomes and facial shape. We found that children with growth faltering have faces that look like those of older and taller children, in a direction opposite to the expected allometric trajectory, and in ways predicted by the environmental portion of covariance at the community and individual levels. The environmental variance for facial shape varied subtly but significantly among communities, whereas genetic differences were minimal. These results reveal that facial shape preserves information about exposure to undernourishment, with important implications for refining assessments of nutritional status in children and the developmental-genetics of craniofacial variation alike.
人类面部形状和身高的变化是由基因和环境影响之间的复杂相互作用决定的。营养不良就是这样一种环境影响,它可能导致生长发育迟缓,通常通过将个体身高与一组适合其年龄的标准进行比较来诊断。然而,这些身高标准通常是在生长发育迟缓风险较低的人群中确定的。此外,不同人群在身高方面的基因差异已得到充分证实,这使得基于身高的诊断工具的通用性更加复杂。在坦桑尼亚姆万扎市及其周边地区的一大群5至19岁儿童中,我们获取了他们的高分辨率基因组数据、人体测量数据和3D面部图像。通过全基因组复杂性状分析,我们对生长结果和面部形状的遗传和环境方差进行了划分。我们发现,生长发育迟缓的儿童的面部看起来与年龄更大、身高更高的儿童相似,其方向与预期的异速生长轨迹相反,且符合社区和个体层面协方差环境部分所预测的方式。面部形状的环境方差在不同社区之间有细微但显著的差异,而基因差异则很小。这些结果表明,面部形状保留了有关营养不良暴露的信息,这对完善儿童营养状况评估以及颅面变异的发育遗传学都具有重要意义。