Genetic evidence for facial variation being a composite phenotype of cranial variation and facial soft tissue thickness
Facial and cranial variation represent a multidimensional set of highly correlated and heritable phenotypes. Little is known about the genetic basis explaining this correlation. We develop a software package ALoSFL for simultaneous localization of facial and cranial landmarks from head computed tomo...
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| Veröffentlicht in: | Journal of genetics and genomics 2022-10, Vol.49 (10), p.934-942 |
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| container_title | Journal of genetics and genomics |
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| creator | Qian, Wei Zhang, Manfei Wan, Kaiwen Xie, Yunxia Du, Siyuan Li, Jiarui Mu, Xiongzheng Qiu, Jiange Xue, Xiangyang Zhuang, Xiahai Wu, Yingzhi Liu, Fan Wang, Sijia |
| description | Facial and cranial variation represent a multidimensional set of highly correlated and heritable phenotypes. Little is known about the genetic basis explaining this correlation. We develop a software package ALoSFL for simultaneous localization of facial and cranial landmarks from head computed tomography (CT) images, apply it in the analysis of head CT images of 777 Han Chinese women, and obtain a set of phenotypes representing variation in face, skull and facial soft tissue thickness (FSTT). Association analysis of 301 single nucleotide polymorphisms (SNPs) from 191 distinct genomic loci previously associated with facial variation reveals an unexpected larger number of loci showing significant associations (P |
| doi_str_mv | 10.1016/j.jgg.2022.02.020 |
| format | Article |
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Little is known about the genetic basis explaining this correlation. We develop a software package ALoSFL for simultaneous localization of facial and cranial landmarks from head computed tomography (CT) images, apply it in the analysis of head CT images of 777 Han Chinese women, and obtain a set of phenotypes representing variation in face, skull and facial soft tissue thickness (FSTT). Association analysis of 301 single nucleotide polymorphisms (SNPs) from 191 distinct genomic loci previously associated with facial variation reveals an unexpected larger number of loci showing significant associations (P < 1e–3) with cranial phenotypes than expected under the null (O/E = 3.39), suggesting facial and cranial phenotypes share a substantial proportion of genetic components. Adding FSTT to a SNP-only model shows a large impact in explaining facial variance. A gene ontology analysis reveals that bone morphogenesis and osteoblast differentiation likely underlie our cranial-significant findings. Overall, this study simultaneously investigates the genetic effects on both facial and cranial variation of the same sample, supporting that facial variation is a composite phenotype of cranial variation and FSTT.</description><identifier>ISSN: 1673-8527</identifier><identifier>DOI: 10.1016/j.jgg.2022.02.020</identifier><identifier>PMID: 35259542</identifier><language>eng</language><publisher>China: Elsevier Ltd</publisher><subject>Association analysis ; Computed tomography ; Cranial variation ; Facial soft tissue thickness ; Facial variation ; Single nucleotide polymorphism</subject><ispartof>Journal of genetics and genomics, 2022-10, Vol.49 (10), p.934-942</ispartof><rights>2022 The Authors</rights><rights>Copyright © 2022 The Authors. Published by Elsevier Ltd.. 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Little is known about the genetic basis explaining this correlation. We develop a software package ALoSFL for simultaneous localization of facial and cranial landmarks from head computed tomography (CT) images, apply it in the analysis of head CT images of 777 Han Chinese women, and obtain a set of phenotypes representing variation in face, skull and facial soft tissue thickness (FSTT). Association analysis of 301 single nucleotide polymorphisms (SNPs) from 191 distinct genomic loci previously associated with facial variation reveals an unexpected larger number of loci showing significant associations (P < 1e–3) with cranial phenotypes than expected under the null (O/E = 3.39), suggesting facial and cranial phenotypes share a substantial proportion of genetic components. Adding FSTT to a SNP-only model shows a large impact in explaining facial variance. 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| source | ScienceDirect Journals (5 years ago - present); Alma/SFX Local Collection |
| subjects | Association analysis Computed tomography Cranial variation Facial soft tissue thickness Facial variation Single nucleotide polymorphism |
| title | Genetic evidence for facial variation being a composite phenotype of cranial variation and facial soft tissue thickness |
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