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The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism
X. Guan1; Y. Song1; J. Ott2; Y. Zhang1; C. Li1; T. Xin1; Z. Li3; Y. Gan4; J. Li1; S. Zhou1; Y. Zhou5
第一作者X. Guan
2015-09
发表期刊JOURNAL OF DENTAL RESEARCH
通讯作者邮箱yanhengzhou@vip.163.com
文章类型Article
卷号94期号:9页码:1196-1201
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.

关键词Whole Genome Analysis Snv Craniofacial Biology/genetics Orthodontic(s) Molecular Genetics Bioinformatics
DOI10.1177/0022034515589957
语种英语
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.psych.ac.cn/handle/311026/26596
专题健康与遗传心理学研究室
作者单位1.Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, P.R. China
2.Department of Laboratory of Statistical Genetics, Institute of Psychology, Chinese Academy of Sciences, Beijing, P.R. China, and Rockefeller University, New York, NY, USA
3.Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology. Beijing, P.R. China
4.Department of Laboratory of Molecular Biology and Center for TMD and Orofacial Pain, Peking University School and Hospital ofStomatology. Beijing, P.R. China
5.Department of Orthodontics, Center for Craniofacial Stem Cell Research, Regeneration, and Translational Medicine, Peking UniversitySchool and Hospital of Stomatology, Beijing, P.R. China
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GB/T 7714
X. Guan,Y. Song,J. Ott,et al. The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism[J]. JOURNAL OF DENTAL RESEARCH,2015,94(9):1196-1201.
APA X. Guan.,Y. Song.,J. Ott.,Y. Zhang.,C. Li.,...&Y. Zhou.(2015).The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism.JOURNAL OF DENTAL RESEARCH,94(9),1196-1201.
MLA X. Guan,et al."The ADAMTS1 Gene Is Associated with Familial Mandibular Prognathism".JOURNAL OF DENTAL RESEARCH 94.9(2015):1196-1201.
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