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 |
通讯作者邮箱 | yanhengzhou@vip.163.com |
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 |
2015-09 | |
语种 | 英语 |
DOI | 10.1177/0022034515589957 |
发表期刊 | JOURNAL OF DENTAL RESEARCH
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卷号 | 94期号:9页码:1196-1201 |
期刊论文类型 | Article |
引用统计 | |
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 |
推荐引用方式 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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