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Contribution of FGFR1 Variants to Craniofacial Variations in East Asians

http://hdl.handle.net/20.500.12000/46976
http://hdl.handle.net/20.500.12000/46976
8d3c914e-8f2c-4ce4-a967-2a478ee0241e
名前 / ファイル ライセンス アクション
journal.pone.0170645.pdf journal.pone.0170645.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-10-13
タイトル
タイトル Contribution of FGFR1 Variants to Craniofacial Variations in East Asians
言語 en
作成者 Adel, Mohamed

× Adel, Mohamed

en Adel, Mohamed

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Yamaguchi, Tetsutaro

× Yamaguchi, Tetsutaro

en Yamaguchi, Tetsutaro

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Tomita, Daisuke

× Tomita, Daisuke

en Tomita, Daisuke

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Nakawaki, Takatoshi

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en Nakawaki, Takatoshi

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Kim, Yong-Il

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en Kim, Yong-Il

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Hikita, Yu

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en Hikita, Yu

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Haga, Shugo

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en Haga, Shugo

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Takahashi, Masahiro

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en Takahashi, Masahiro

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Nadim, Mohamed A.

× Nadim, Mohamed A.

en Nadim, Mohamed A.

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Kawaguchi, Akira

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en Kawaguchi, Akira

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Isa, Mutsumi

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en Isa, Mutsumi

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El-Kenany, Walid H.

× El-Kenany, Walid H.

en El-Kenany, Walid H.

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El-Kadi, Abbadi A.

× El-Kadi, Abbadi A.

en El-Kadi, Abbadi A.

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Park, Soo-Byung

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Ishida, Hajime

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Maki, Koutaro

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Kimura, Ryosuke

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en Kimura, Ryosuke

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アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution 4.0
権利情報
言語 en
権利情報Resource https://creativecommons.org/licenses/by/4.0/
権利情報 https://creativecommons.org/licenses/by/4.0/
内容記述
内容記述タイプ Other
内容記述 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.
内容記述
内容記述タイプ Other
内容記述 論文
出版者
出版者 Public Library of Science
言語 en
言語
言語 eng
資源タイプ
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
資源タイプ journal article
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/46976
識別子タイプ HDL
関連情報
識別子タイプ DOI
関連識別子 https://doi.org/10.1371/journal.pone.0170645
関連情報
識別子タイプ DOI
関連識別子 https://doi.org/10.1371/journal.pone.0170645
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 1932-6203
収録物名
収録物名 PLoS ONE
言語 en
書誌情報
巻 12, 号 1, 発行日 2017-01-27
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