A genome-wide association scan reveals novel loci for facial traits of Koreans

Genomics. 2023 Nov;115(6):110710. doi: 10.1016/j.ygeno.2023.110710. Epub 2023 Sep 19.

Abstract

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.

Keywords: Facial GWAS; HECTD2; Korean; Polygenic score; Replication.

MeSH terms

  • Genetic Loci*
  • Genetics, Population
  • Genome-Wide Association Study* / methods
  • Humans
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Republic of Korea
  • Ubiquitin-Conjugating Enzymes / genetics

Substances

  • UBE2O protein, human
  • Ubiquitin-Conjugating Enzymes