{"doi":"10.1093/fsr/owad011","title":"Effect of genetic variants in\n                    <i>UBE2O</i>\n                    and\n                    <i>TPK1</i>\n                    on facial morphology of Koreans","abstract":"<jats:title>Abstract</jats:title>\n                  <jats:sec>\n                    <jats:title> </jats:title>\n                    <jats:p>Human face is a highly heritable and complex trait. Many genome-wide analyses have identified genetic variants influencing facial morphology. Genome-wide association studies (GWASs) investigating facial morphologies of different populations provide a comprehensive insight into the genetic basis of the human face. Here, we report a GWAS of normal facial variation in Koreans using an array optimized for the Korean population (KoreanChip). We found that novel genetic variants encompassing four loci reached the genome-wide significance threshold. They include LOC107984547, UBE2O, TPK1, and LINC01148 loci associated with facial angle, brow ridge protrusion, nasal height, and eyelid curvature. Our results also validated previously published genetic loci, including FAT4, SOX9, and TBX3 loci. All confirmed genetic variants showed phenotypic differences involving each facial trait based on the effect of the minor allele. The present study highlights genetic signals associated with normal human facial variation and provides candidates for functional studies.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Key points</jats:title>\n                  </jats:sec>","journal":"Forensic Sciences Research","year":2023,"id":618510,"datarank":0.20794415416798362,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"self_citation_contribution":0.20794415416798362,"citation_network_contribution":0.0,"self_endowment_contribution":0.20794415416798362,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":31955,"name":"Hyo-Jeong Ban","orcid":"0000-0002-4914-887X","position":1,"is_corresponding":false},{"id":1595661,"name":"Hyun-Seok Jin","orcid":null,"position":2,"is_corresponding":false},{"id":1595662,"name":"Seongwon Cha","orcid":null,"position":3,"is_corresponding":false},{"id":1595663,"name":"Yong-Bin Eom","orcid":null,"position":4,"is_corresponding":false},{"id":1595660,"name":"Hye-Won Cho","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Effect of genetic variants in\n                    <i>UBE2O</i>\n                    and\n                    <i>TPK1</i>\n                    on facial morphology of Koreans","abstract":"<jats:title>Abstract</jats:title>\n                  <jats:sec>\n                    <jats:title> </jats:title>\n                    <jats:p>Human face is a highly heritable and complex trait. Many genome-wide analyses have identified genetic variants influencing facial morphology. Genome-wide association studies (GWASs) investigating facial morphologies of different populations provide a comprehensive insight into the genetic basis of the human face. Here, we report a GWAS of normal facial variation in Koreans using an array optimized for the Korean population (KoreanChip). We found that novel genetic variants encompassing four loci reached the genome-wide significance threshold. They include LOC107984547, UBE2O, TPK1, and LINC01148 loci associated with facial angle, brow ridge protrusion, nasal height, and eyelid curvature. Our results also validated previously published genetic loci, including FAT4, SOX9, and TBX3 loci. All confirmed genetic variants showed phenotypic differences involving each facial trait based on the effect of the minor allele. The present study highlights genetic signals associated with normal human facial variation and provides candidates for functional studies.</jats:p>\n                  </jats:sec>\n                  <jats:sec>\n                    <jats:title>Key points</jats:title>\n                  </jats:sec>","is_dataset_classified":null,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"37415797","pmcid":"PMC10265972","openalex_id":"https://openalex.org/W4361001759","authors":[],"funders":[{"funder_name":"Republic of Korea","grant_id":"KBN-2020-076","title":null},{"funder_name":"Soonchunhyang University Research Fund and National Research Foundation of Korea","grant_id":"2020R1F1A1071977","title":null},{"funder_name":"Soonchunhyang University Research Fund and National Research Foundation of Korea","grant_id":"NRF-2018M3E3A1057298","title":null},{"funder_name":"National Biobank of Korea","grant_id":"","title":null},{"funder_name":"Korea Disease Control and Prevention Agency","grant_id":"","title":null}],"total_grants":5,"fwci":0.6489,"citation_percentile":0.71748739,"influential_citations":0,"citation_trend":[{"year":2025,"count":3}],"oa_status":"gold","license":"cc-by-nc","oa_locations":[{"url":"https://academic.oup.com/fsr/advance-article-pdf/doi/10.1093/fsr/owad011/49650093/owad011.pdf","host_type":"journal"},{"url":"https://academic.oup.com/fsr/advance-article-pdf/doi/10.1093/fsr/owad011/49650093/owad011.pdf","host_type":"publisher"},{"url":"https://academic.oup.com/fsr/article-pdf/8/1/62/50571581/owad011.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1093/fsr/owad011","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/37415797","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10265972","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10265972/pdf/owad011.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC10265972","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC10265972?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Genetic and phenotypic traits in livestock","melanin and skin pigmentation","Genetic Mapping and Diversity in Plants and Animals"],"mesh_terms":[],"keywords":["Genome-wide association study","Biology","Genetics","Population","Allele","Genetic variation","Evolutionary biology","Gene","Genotype","Single-nucleotide polymorphism","Medicine","Korean","Gwas","Facial Morphology","Forensic Sciences","Craniofacial Features","Tpk1","Ube2o"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"refsnp"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T04:36:32.715845Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}