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学科主题: 口腔医学
题名:
The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism
作者: 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
发表日期: 2015-09-01
DOI: 10.1177/0022034515589957
卷: 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
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
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000360188900004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/68162
Appears in Collections:北京大学口腔医学院_牙周科_期刊论文

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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

Recommended Citation:
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.
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