Lee Donghyun, Ban Hyo-Jeong, Hong Kyung-Won, Lee Jong Young, Cha Seongwon
Oneomics Co., Ltd., Bucheon-si, Gyeonggi-do, 14585, South Korea.
KM Data Division, Korea Institute of Oriental Medicine, Daejeon, 34054, South Korea.
Heliyon. 2024 Oct 10;10(20):e39173. doi: 10.1016/j.heliyon.2024.e39173. eCollection 2024 Oct 30.
Facial features are determined by interactions between genetic and environmental factors. However, genes underlying facial similarities in individuals from the same family remain less explored. To identify genetic variants associated with heritable facial features, we investigated familial (parent-offspring) associations and estimated familial correlation and heritability using 39 facial measurements in 408 individuals from 117 Korean families. Facial trait heritability ranged from 0.124 to 0.669. Longitudinal facial growth-related traits were highly heritable, including distances from the nasion to right alare ( = 0.668898), pogonion to midendocanthion ( = 0.661557), subnasale to midendocanthion ( = 0.656882), and morphological facial height ( = 0. 654376). We identified the top three significant genome-wide associated variants in the eye, nose, and lip-jaw regions. (rs10511632: beta = -0.02696, = 1.146 × 10) and (rs397509305: beta = 0.02741, = 7.17 × 10) loci were associated with distance from the nasion to the right alare. The (rs228913: beta = 0.05101, = 3.68 × 10) locus was associated with the distance from the labiale superius to the pogonion and lower facial height. These associations were maintained in an independent unrelated population. In conclusion, we identified new gene variants associated with longitudinal facial morphology that may affect individual facial differences, which has important implications for clinical and forensic applications.
面部特征由遗传和环境因素之间的相互作用决定。然而，来自同一家族的个体面部相似性背后的基因仍未得到充分探索。为了识别与可遗传面部特征相关的基因变异，我们调查了家族性（亲子）关联，并使用来自117个韩国家庭的408名个体的39项面部测量数据估计了家族相关性和遗传力。面部特征遗传力范围为0.124至0.669。与面部纵向生长相关的特征具有高度遗传性，包括从鼻根到右鼻翼的距离（= 0.668898）、颏前点到内眦中点的距离（= 0.661557）、鼻下点到内眦中点的距离（= 0.656882）以及面部形态高度（= 0.654376）。我们在眼睛、鼻子和唇颌区域确定了全基因组关联最显著的三个变异。（rs10511632：β = -0.02696，= 1.146 × 10）和（rs397509305：β = 0.02741，= 7.17 × 10）位点与从鼻根到右鼻翼的距离相关。（rs228913：β = 0.05101，= 3.68 × 10）位点与上唇到颏前点的距离和下面部高度相关。这些关联在一个独立的非相关人群中也成立。总之，我们确定了与面部纵向形态相关的新基因变异，这些变异可能影响个体面部差异，这对临床和法医应用具有重要意义。
