rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population.
rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population.
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GLI3 rs929387 参与中国汉族人群牙齿发育不全
DOI：
10.1371/journal.pone.0080860
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Feng H
中科院分区：
文献类型：
--
作者：
Liu H;Han D;Wong S;Nan X;Zhao H;Feng H
牙齿发育不全是人类牙列中最常见的畸形之一。最近的研究表明，一些基因与综合征型和非综合征型的牙缺如症有关。在之前的一项研究中，我们观察到GLI3基因rs929387的多态可能与中国汉族人群在有限人群中的牙齿缺失有关。为了进一步证实这一观察结果，在这项研究中，我们选择了89名被诊断为散发性非综合征性少牙的个体(男性40名，女性49名)来研究GLI3基因rs929387多态性与牙齿发育不全的关系。对273名(125名男性和148名女性)被诊断为非综合征性缺牙的受试者和200名健康对照受试者(100名男性和100名女性)进行了分析。从全血或唾液中提取DNA，用基质辅助激光解吸电离飞行时间质谱仪(MALDI-TOF MS)进行基因分型。GLI3基因rs929387的等位基因和基因型频率存在显著差异。Rs929387基因TT、TC、CC等位基因在病例组和对照组中的分布差异有统计学意义(P=0.013)，C等位基因频率在病例组较高[P=0.002，OR=1.690，95%CI(1.200~2.379)]。此外，我们的分析表明，在男性病例组和男性对照组之间进行比较时，这种差异更加明显。功能研究表明，rs929387引起的GLI3基因变异导致其转录活性降低。这些数据表明，GLI3基因rs929387与中国汉族人非综合征牙齿发育不全有关。这一信息可能为进一步了解牙齿发育不全的分子机制提供帮助。此外，GLI3基因可作为牙齿发育不良风险的标记基因。
Tooth agenesis is one of the most common anomalies of human dentition. Recent studies suggest that a number of genes are related to both syndromic and non-syndromic forms of hypodontia. In a previous study, we observed that polymorphism in rs929387 of GLI3 might be associated with hypodontia in the Chinese Han population based on a limited population. To further confirm this observation, in this study, we employed 89 individuals diagnosed with sporadic non-syndromic oligodontia (40 males and 49 females) to investigate the relationship between polymorphism in rs929387 of GLI3 and tooth agenesis. These individuals were analyzed with 273 subjects (125 males and 148 females) diagnosed with non-syndromic hypodontia and 200 healthy control subjects (100 males and 100 females). DNA was obtained from whole blood or saliva samples and genotyping was performed by a Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF MS) method. Significant differences were observed in the allele and genotype frequencies of rs929387 of GLI3. Distributions of genotypes TT, TC and CC of rs929387 polymorphism were significantly different between the case group and the control group (P = 0.013) and C allelic frequency was higher in case group [P = 0.002, OR = 1.690, 95% CI (1.200-2.379)]. Additionally, our analysis shows that this difference is more pronounced when compared between the male case group and the male control group. The function study suggests that variation in GLI3 caused by rs929387 leads to a decrease in its transcriptional activity. These data demonstrated an association between rs929387 of GLI3 and non-syndromic tooth agenesis in Chinese Han individuals. This information may provide further understanding of the molecular mechanisms of tooth agenesis. Furthermore, GLI3 can be regarded as a marker gene for the risk of tooth agenesis.
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影响因子：
2
作者：
Bergendal, Birgitta;Klar, Joakim;Dahl, Niklas
通讯作者：
Dahl, Niklas
影响因子：
4
作者：
van den Boogaard, Marie-Jose;Creton, Marijn;van Amstel, Hans Kristian Ploos
通讯作者：
van Amstel, Hans Kristian Ploos
影响因子：
1.9
作者：
Han, Dong;Gong, Yu;Song, Shujuan
通讯作者：
Song, Shujuan
影响因子：
3
作者：
Galluccio, Gabriella;Castellano, Monica;La Monaca, Camilla
通讯作者：
La Monaca, Camilla
DOI：
10.1016/s0889-5406(00)70173-9
发表时间：
2000-06-01
影响因子：
3
作者：
Vastardis, H
通讯作者：
Vastardis, H