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学科主题基础医学
WNT10A variants are associated with non-syndromic tooth agenesis in the general population
Song, Shujuan1; Zhao, Ruiying1; He, Huiying2; Zhang, Jin2; Feng, Hailan2; Lin, Liyun1
刊名HUMAN GENETICS
2014
DOI10.1007/s00439-013-1360-x
133期:1页:117-124
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]ONYCHO-DERMAL DYSPLASIA ; ECTODERMAL DYSPLASIA ; MUTATIONS ; OLIGODONTIA ; VARIABILITY ; HYPODONTIA ; EDARADD ; TEETH ; AXIN2 ; MSX1
英文摘要

Tooth agenesis is the most common developmental dental anomaly. Absence of one or two permanent teeth is found in the majority of affected subjects. Very few patients suffer severe tooth agenesis. Recent studies revealed that WNT10A gene mutations caused syndromic and isolated severe tooth agenesis. In this study, to determine the contribution of WNT10A variants in different severities of tooth agenesis, we investigated the association between WNT10A variants and non-syndromic tooth agenesis in a Chinese population consisting of 505 tooth agenesis patients and 451 normal controls. Twenty-three novel non-synonymous variants were identified. WNT10A variants were detected in 15.8 % (75/474) of patients with 1-3 missing teeth and 51.6 % (16/31) of patients with 4 or more missing teeth. As compared with a frequency of 3.1 % in individuals with full dentition, variant allele frequencies were significantly elevated in both groups with tooth agenesis (p values of 1.00 x 10(-6) and 3.89 x 10(-23), respectively). Our findings showed that WNT10A variants were associated with non-syndromic tooth agenesis from mild to severe tooth agenesis, and the more severe tooth agenesis, the stronger association. Biallelic genotypes of WNT10A variants may have a pathogenic effect on tooth development. Presence of a single variant allele would be predisposing for causation with low penetrance. Together with WNT10A variant, there should be other genetic or environmental factors leading to biallelic variant-related variable clinical manifestations and single allele variant-related low penetrance. The frequent missing tooth positions in the WNT10A-related cases were consistent with that in the general population, suggesting WNT10A plays a critically important role in the etiology of general tooth agenesis.

语种英语
WOS记录号WOS:000329244500010
项目编号81101181 ; 2012BAI09B04
资助机构Natural Science Foundation of China ; National Key Health Research Project Foundation of China during the 12th Five-Year Plan Period
引用统计
被引频次:25[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59372
专题北京大学基础医学院_医学遗传学系
北京大学基础医学院
北京大学口腔医学院_口腔修复科
北京大学口腔医学院_材料检测中心
作者单位1.Peking Univ, Sch Basic Med Sci, Dept Med Genet, Beijing 100191, Peoples R China
2.Peking Univ, Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China
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GB/T 7714
Song, Shujuan,Zhao, Ruiying,He, Huiying,et al. WNT10A variants are associated with non-syndromic tooth agenesis in the general population[J]. HUMAN GENETICS,2014,133(1):117-124.
APA Song, Shujuan,Zhao, Ruiying,He, Huiying,Zhang, Jin,Feng, Hailan,&Lin, Liyun.(2014).WNT10A variants are associated with non-syndromic tooth agenesis in the general population.HUMAN GENETICS,133(1),117-124.
MLA Song, Shujuan,et al."WNT10A variants are associated with non-syndromic tooth agenesis in the general population".HUMAN GENETICS 133.1(2014):117-124.
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