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学科主题口腔医学
The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism
Guan, X.1; Song, Y.1; Ott, J.2,3; Zhang, Y.1; Li, C.1; Xin, T.1; Li, Z.4; Gan, Y.5,6; Li, J.1; Zhou, S.1; Zhou, Y.7
关键词whole genome analysis SNV craniofacial biology/genetics orthodontic(s) molecular genetics bioinformatics
刊名JOURNAL OF DENTAL RESEARCH
2015-09-01
DOI10.1177/0022034515589957
94期:9页:1196-1201
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dentistry, Oral Surgery & Medicine
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Dentistry, Oral Surgery & Medicine
关键词[WOS]CONDYLAR CARTILAGE ; GROWTH ; MALOCCLUSION ; OSTEOBLASTS ; EXPRESSION ; TOOTH ; JAW
英文摘要

Mandibular prognathism is a facial skeletal malocclusion. Until now, the genetic mechanism has been unclear. The goal of this study was to identify candidate genes or genomic regions directly associated with mandibular prognathism development, by employing whole genome sequencing. A large Chinese family was recruited, composed of 9 affected and 12 unaffected individuals, and the inheritance pattern of this family tends to be autosomal dominant. A single-nucleotide missense mutation in the ADAMTS1 gene (c. 742I>T) was found to segregate in the family, given that the affected individuals must be heterozygous for the mutation. For mutation validation, we screened this candidate mutation and 15 tag single-nucleotide polymorphisms in the coding sequence of ADAMTS1 among 230 unrelated cases and 196 unrelated controls using Sequenom Massarray and found that 3 in 230 cases carried this mutation and none of the controls did. Final results suggested that 2 single-nucleotide polymorphisms (rs2738, rs229038) of ADAMTS1 were significantly associated with mandibular prognathism.

语种英语
所属项目编号81170980
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000360188900004
引用统计
被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/68162
专题北京大学口腔医学院_牙周科
作者单位1.Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Beijing 100081, Peoples R China
2.Chinese Acad Sci, Inst Psychol, Dept Lab Stat Genet, Beijing 100101, Peoples R China
3.Rockefeller Univ, New York, NY 10021 USA
4.Peking Univ, Sch & Hosp Stomatol, Dept Oral & Maxillofacial Surg, Beijing 100081, Peoples R China
5.Peking Univ, Sch & Hosp Stomatol, Dept Lab Mol Biol, Beijing 100081, Peoples R China
6.Peking Univ, Sch & Hosp Stomatol, Ctr TMD & Orofacial Pain, Beijing 100081, Peoples R China
7.Peking Univ, Sch & Hosp Stomatol, Dept Orthodont, Ctr Craniofacial Stem Cell Res Regenerat & Transl, Beijing 100081, Peoples R China
推荐引用方式
GB/T 7714
Guan, X.,Song, Y.,Ott, J.,et al. The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism[J]. JOURNAL OF DENTAL RESEARCH,2015,94(9):1196-1201.
APA Guan, X..,Song, Y..,Ott, J..,Zhang, Y..,Li, C..,...&Zhou, Y..(2015).The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism.JOURNAL OF DENTAL RESEARCH,94(9),1196-1201.
MLA Guan, X.,et al."The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism".JOURNAL OF DENTAL RESEARCH 94.9(2015):1196-1201.
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