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学科主题: 口腔医学
题名:
A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population
作者: Liu, Haochen1; Zhang, Jin1; Song, Shujuan2; Zhao, Hongshan2,3; Han, Dong1; Feng, Hailan1
关键词: case-control study ; non-syndromic hypodontia ; single nucleotide polymorphism ; tooth agenesis
刊名: EUROPEAN JOURNAL OF ORAL SCIENCES
发表日期: 2012-10-01
DOI: 10.1111/j.1600-0722.2012.00986.x
卷: 120, 期:5, 页:378-385
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]: ONYCHO-DERMAL DYSPLASIA ; ECTODERMAL DYSPLASIA ; AGENESIS ; MUTATION ; WNT10A ; PAX9 ; MSX1 ; GLI3
英文摘要:

Hypodontia is one of the most common anomalies of human dentition. Recent genetic studies provide information on a number of genes related to both syndromic and non-syndromic forms of hypodontia. Fifty putative single nucleotide polymorphisms (SNPs) in 20 genes that play important roles in tooth development were selected, and a casecontrol study was conducted in 273 subjects with hypodontia (cases) and 200 subjects without hypodontia (controls). DNA was obtained from samples of whole blood or saliva. Genotyping was performed by matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS). A significant difference was observed, between subjects with non-syndromic hypodontia and controls, in the allele and genotype frequencies of two markers [rs929387 of GLI family zinc finger 3 (GLI3) and rs11001553 of Dickkopf-related protein 1 (DKK1)]. Similar results were observed in a subgroup analysis of test subjects (stratified by gender or missing tooth position). However, this analysis showed no significant difference in the haplotype distribution between the controls and the affected subjects. These data demonstrate an association between some SNPs in tooth development-associated genes and sporadic non-syndromic hypodontia in Chinese Han individuals. This information may provide further understanding of the molecular mechanisms of tooth agenesis. Furthermore, these genes can be regarded as candidates for mutation detection in individuals with tooth agenesis.

语种: 英语
所属项目编号: 7092113 ; 81070814 ; 2007-1005
项目资助者: Beijing Natural Science Foundation ; National Natural Science Foundation ; Capital Medical Developing Foundation
WOS记录号: WOS:000308929800002
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59764
Appears in Collections:北京大学口腔医学院_口腔修复科_期刊论文

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作者单位: 1.Peking Univ, Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China
2.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100081, Peoples R China
3.Peking Univ, Hlth Sci Ctr, Ctr Human Dis Genom, Beijing 100081, Peoples R China

Recommended Citation:
Liu, Haochen,Zhang, Jin,Song, Shujuan,et al. A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population[J]. EUROPEAN JOURNAL OF ORAL SCIENCES,2012,120(5):378-385.
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