Cho Hye-Won, Ban Hyo-Jeong, Jin Hyun-Seok, Cha Seongwon, Eom Yong-Bin
Department of Medical Sciences, Graduate School, Soonchunhyang University, Asan, Chungnam 31538, Republic of Korea.
Korea Medicine (KM) Data Division, Korea Institute of Oriental Medicine, Daejeon 34054, Republic of Korea.
Genomics. 2023 Nov;115(6):110710. doi: 10.1016/j.ygeno.2023.110710. Epub 2023 Sep 19.
DNA-based prediction of externally visible characteristics (EVC) with SNPs is one of the research areas of interest in the forensic field. Based on a previous study performing GWAS on facial traits in a Korean population, herein, we present results stemming from GWA analysis with KoreanChip and novel genetic loci satisfying genome-wide significant level. We discovered a total of 20 signals and 12 loci were found to have novel associations with facial traits, including six loci located in intergenic regions and six loci located at UBE2O, HECTD2, CCDC108, TPK1, FCN2, and FRMPD1. Additionally, we performed a polygenic score analysis for 33 distance-related traits in facial phenotyping and determined genetic relationships between facial traits and SNPs using the GCTA program. The results of the current study offer an understanding of how facial morphology is influenced by complex genetic structures and provide insights into forensic investigation and population genetics.
利用单核苷酸多态性（SNP）基于DNA预测外部可见特征（EVC）是法医学领域的研究热点之一。基于之前一项针对韩国人群面部特征进行全基因组关联研究（GWAS）的研究，在此，我们展示了使用韩国芯片进行全基因组关联分析（GWA）的结果以及满足全基因组显著水平的新基因座。我们总共发现了20个信号，其中12个基因座被发现与面部特征存在新的关联，包括位于基因间区域的6个基因座以及位于UBE2O、HECTD2、CCDC108、TPK1、FCN2和FRMPD1的6个基因座。此外，我们对面部表型分析中的33个与距离相关的特征进行了多基因评分分析，并使用GCTA程序确定了面部特征与SNP之间的遗传关系。本研究结果有助于理解面部形态如何受到复杂遗传结构的影响，并为法医调查和群体遗传学提供见解。
