Department of Orthodontics, UTHealth School of Dentistry, Houston, Texas.
Center for Craniofacial Research, UTHealth School of Dentistry, Houston, Texas.
Orthod Craniofac Res. 2018 Nov;21(4):258-263. doi: 10.1111/ocr.12248. Epub 2018 Oct 4.
To investigate the association of single nucleotide variants in the candidate genes WNT10A, WNT10B and GREM2 with isolated tooth agenesis.
A total of 435 Caucasian individuals (88 cases with isolated tooth agenesis and 347 unrelated controls) were ascertained at the University of Texas Health Science Center at Houston School of Dentistry. Clinical and radiographic examination by orthodontists confirmed the diagnosis of tooth agenesis. Genetic evaluation excluded syndromic forms of tooth agenesis.
Saliva samples were collected as source of genomic DNA. Fourteen variants in/nearby WNT10A, WNT10B and GREM2 were genotyped to test for association with tooth agenesis. Genotyping was performed using TaqMan chemistry in a real-time polymerase chain reaction assay. Allelic and haplotype frequencies were compared among cases and controls using chi-square tests as implemented in PLINK v.1.06. Bonferroni correction was used and P ≤ 0.004 indicates statistical differences between groups.
Significant associations were found between individual SNPs and SNP combinations in WNT10A, WNT10B and GREM2 SNPs with isolated tooth agenesis (P < 0.004).
Our findings further support a role for variants in WNT10A, WNT10B and GREM2 genes in the aetiology of isolated tooth agenesis. Functional studies are necessary to investigate the biological effects of these gene variants in tooth agenesis phenotypes.
研究候选基因 WNT10A、WNT10B 和 GREM2 中的单核苷酸变异与孤立性牙齿缺失的关联。
在休斯顿德克萨斯大学健康科学中心牙科学院共确定了 435 名高加索个体(88 例孤立性牙齿缺失和 347 名无关对照)。正畸医生进行临床和影像学检查以确认牙齿缺失的诊断。遗传评估排除了综合征形式的牙齿缺失。
收集唾液样本作为基因组 DNA 的来源。对 WNT10A、WNT10B 和 GREM2 附近的 14 个变体进行基因分型,以测试其与牙齿缺失的关联。使用 TaqMan 化学在实时聚合酶链反应测定中进行基因分型。使用 PLINK v.1.06 中的卡方检验比较病例和对照组之间的等位基因和单倍型频率。Bonferroni 校正,P≤0.004 表示组间存在统计学差异。
在 WNT10A、WNT10B 和 GREM2 SNPs 中发现了与孤立性牙齿缺失相关的个体 SNP 和 SNP 组合之间存在显著关联(P<0.004)。
我们的研究结果进一步支持 WNT10A、WNT10B 和 GREM2 基因中的变异在孤立性牙齿缺失发病机制中的作用。有必要进行功能研究以调查这些基因变异在牙齿缺失表型中的生物学效应。