2024-03-28T21:49:52Z
https://u-ryukyu.repo.nii.ac.jp/oai
oai:u-ryukyu.repo.nii.ac.jp:02011141
2023-08-03T05:32:51Z
1642838163960:1642838338003
1642838403551:1642838407795
Contribution of FGFR1 Variants to Craniofacial Variations in East Asians
Adel, Mohamed
Yamaguchi, Tetsutaro
Tomita, Daisuke
Nakawaki, Takatoshi
Kim, Yong-Il
Hikita, Yu
Haga, Shugo
Takahashi, Masahiro
Nadim, Mohamed A.
Kawaguchi, Akira
Isa, Mutsumi
El-Kenany, Walid H.
El-Kadi, Abbadi A.
Park, Soo-Byung
Ishida, Hajime
Maki, Koutaro
Kimura, Ryosuke
FGFR1 plays an important role in the development of the nervous system as well as the regulation of the skeletal development and bone homeostasis. Mutations in FGFR1 genes affect skull development, specifically suture and synchondrosis, resulting in craniosynostosis and facial abnormalities. We examined subjects with normal skull morphology for genetic polymorphisms that might be associated with normal craniofacial variations. Genomic DNA was obtained from 216 Japanese and 227 Korean subjects. Four FGFR1 SNPs, namely, rs881301, rs6996321, rs4647905, and rs13317, were genotyped. These SNPs were tested for association with craniofacial measurements obtained from lateral and posteroanterior cephalometries, in which principle component analysis was performed to compress the data of the craniofacial measurements. We observed that SNPs rs13317 and rs6996321 were correlated with the overall head size and midfacial development, indicating that FGFR1 SNPs played crucial roles in the normal variation of human craniofacial morphology. Subjects with the derived alleles of SNPs rs13317 and rs6996321 had a small face and a facial pattern associated with a retruded midface and relatively wide-set eyes. These facial features were similar to but were milder than those of individuals with Pfeiffer syndrome, which is caused by a dysfunctional mutation in FGFR1.
論文
http://purl.org/coar/resource_type/c_6501
Public Library of Science
2017-01-27
VoR
http://hdl.handle.net/20.500.12000/46976
1932-6203
PLoS ONE
1
12
eng
https://doi.org/10.1371/journal.pone.0170645
https://doi.org/10.1371/journal.pone.0170645
open access
Creative Commons Attribution 4.0
https://creativecommons.org/licenses/by/4.0/