High heritability of human facial traits reveals associations with CNTLN, BRCA1, and TMPRSS6 loci in Korean families
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–o...
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Elsevier
2024-10-01
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024152048 |
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| author | Donghyun Lee Hyo-Jeong Ban Kyung-Won Hong Jong Young Lee Seongwon Cha |
| author_facet | Donghyun Lee Hyo-Jeong Ban Kyung-Won Hong Jong Young Lee Seongwon Cha |
| author_sort | Donghyun Lee |
| collection | DOAJ |
| description | 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 (h2 = 0.668898), pogonion to midendocanthion (h2 = 0.661557), subnasale to midendocanthion (h2 = 0.656882), and morphological facial height (h2 = 0. 654376). We identified the top three significant genome-wide associated variants in the eye, nose, and lip–jaw regions. CNTLN (rs10511632: beta = −0.02696, p = 1.146 × 10−9) and BRCA1 (rs397509305: beta = 0.02741, p = 7.17 × 10−9) loci were associated with distance from the nasion to the right alare. The TMPRSS6 (rs228913: beta = 0.05101, p = 3.68 × 10−9) 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. |
| format | Article |
| id | doaj-art-fdaa992ca38f4d3eb983dba44ec08e09 |
| institution | Kabale University |
| issn | 2405-8440 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | Elsevier |
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| series | Heliyon |
| spelling | doaj-art-fdaa992ca38f4d3eb983dba44ec08e092024-11-12T05:19:58ZengElsevierHeliyon2405-84402024-10-011020e39173High heritability of human facial traits reveals associations with CNTLN, BRCA1, and TMPRSS6 loci in Korean familiesDonghyun Lee0Hyo-Jeong Ban1Kyung-Won Hong2Jong Young Lee3Seongwon Cha4Oneomics Co., Ltd., Bucheon-si, Gyeonggi-do, 14585, South KoreaKM Data Division, Korea Institute of Oriental Medicine, Daejeon, 34054, South KoreaTheragen Bio Co., Ltd., Seongnam-si, Gyeonggi-do, 13493, South KoreaOneomics Co., Ltd., Bucheon-si, Gyeonggi-do, 14585, South Korea; Corresponding author.KM Data Division, Korea Institute of Oriental Medicine, Daejeon, 34054, South Korea; Corresponding author.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 (h2 = 0.668898), pogonion to midendocanthion (h2 = 0.661557), subnasale to midendocanthion (h2 = 0.656882), and morphological facial height (h2 = 0. 654376). We identified the top three significant genome-wide associated variants in the eye, nose, and lip–jaw regions. CNTLN (rs10511632: beta = −0.02696, p = 1.146 × 10−9) and BRCA1 (rs397509305: beta = 0.02741, p = 7.17 × 10−9) loci were associated with distance from the nasion to the right alare. The TMPRSS6 (rs228913: beta = 0.05101, p = 3.68 × 10−9) 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.http://www.sciencedirect.com/science/article/pii/S2405844024152048Facial traitCNTLNBRCA1TMPRSS6Single nucleotide polymorphism |
| spellingShingle | Donghyun Lee Hyo-Jeong Ban Kyung-Won Hong Jong Young Lee Seongwon Cha High heritability of human facial traits reveals associations with CNTLN, BRCA1, and TMPRSS6 loci in Korean families Heliyon Facial trait CNTLN BRCA1 TMPRSS6 Single nucleotide polymorphism |
| title | High heritability of human facial traits reveals associations with CNTLN, BRCA1, and TMPRSS6 loci in Korean families |
| title_full | High heritability of human facial traits reveals associations with CNTLN, BRCA1, and TMPRSS6 loci in Korean families |
| title_fullStr | High heritability of human facial traits reveals associations with CNTLN, BRCA1, and TMPRSS6 loci in Korean families |
| title_full_unstemmed | High heritability of human facial traits reveals associations with CNTLN, BRCA1, and TMPRSS6 loci in Korean families |
| title_short | High heritability of human facial traits reveals associations with CNTLN, BRCA1, and TMPRSS6 loci in Korean families |
| title_sort | high heritability of human facial traits reveals associations with cntln brca1 and tmprss6 loci in korean families |
| topic | Facial trait CNTLN BRCA1 TMPRSS6 Single nucleotide polymorphism |
| url | http://www.sciencedirect.com/science/article/pii/S2405844024152048 |
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