A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population
A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population
复制标题
中国汉族人群牙齿发育基因多态性与非综合征性牙齿发育不全关系的病例对照研究
DOI：
10.1111/j.1600-0722.2012.00986.x
复制
发表时间：
2012-10-01
影响因子：
1.9
通讯作者：
Feng, Hailan
中科院分区：
文献类型：
--
作者：
Liu, Haochen;Zhang, Jin;Feng, Hailan
缺牙是人类最常见的牙列畸形之一。最近的遗传学研究提供了一些与综合征型和非综合征型缺牙相关的基因的信息。选择在牙齿发育中起重要作用的20个基因中的50个推定的单核苷酸多态性（SNP），并在273名患有缺牙的受试者（病例）和200名没有缺牙的受试者（对照）中进行病例对照研究。从全血或唾液样品中获得DNA。采用基质辅助激光解吸电离飞行时间质谱（MALDI-TOF-MS）进行基因分型。在非综合征性缺牙受试者和对照者之间，观察到两个标记物[GLI家族锌指3（GLI 3）的rs 929387和Dickkopf相关蛋白1（DKK 1）的rs 11001553]的等位基因和基因型频率存在显著差异。在测试受试者的亚组分析中观察到类似的结果（按性别或缺失牙齿位置分层）。然而，该分析显示对照组和受影响受试者之间的单倍型分布没有显著差异。这些数据表明，牙齿发育相关基因中的一些SNP与中国汉族人散发性非综合征性牙发育不良之间存在关联。这些信息可能有助于进一步了解牙齿发育不全的分子机制。此外，这些基因可以被视为候选人的突变检测与牙齿发育不全的个人。
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.