非综合征性唇腭裂的基因多态性与牙齿年龄：一项横断面研究。
Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study.
作者信息
Fonseca-Souza Gabriela, Alves-Souza Lhorrany, de Menezes-Oliveira Maria Angélica Hueb, Daratsianos Nikolaos, Beisel-Memmert Svenja, Kirschneck Christian, Scariot Rafaela, Feltrin-Souza Juliana, Küchler Erika Calvano
机构信息
Department of Stomatology, Federal University of Paraná, Av. Prefeito Lothário Meissner 632, Jardim Botânico, Curitiba, 80210-170, Paraná, Brazil.
Department of Biomaterials, University of Uberaba, Av. Nenê Sabino 1801, Bairro Universitário, Uberaba, 38055-500, Minas Gerais, Brazil.
出版信息
BMC Pediatr. 2025 Jan 30;25(1):80. doi: 10.1186/s12887-025-05444-8.
BACKGROUND
Children with non-syndromic cleft lip with or without palate (CL ± P) may present alterations in dental development. The purpose of this cross-sectional study was to compare the dental age (DA) between children with and without CL ± P, and whether single nucleotide polymorphisms (SNPs) in genes encoding growth factors are associated with DA variations.
METHODS
Children aged between 5 and 14 years with and without CL ± P were recruited to participate in this study. DA was evaluated by calibrated examiners (kappa > 0.80) using the method proposed by Demirjian et al. (1973). Genomic DNA was extracted from buccal cells, and SNPs in Epidermal Growth Factor (EGF) - rs4444903 and rs2237051, Epidermal Growth Factor Receptor (EGFR) - rs2227983 -, Transforming Growth Factor Beta 1 (TGFB1) - rs1800470 and rs4803455 -, and Transforming Growth Factor Beta Receptor 2 (TGFBR2) - rs3087465 - were genotyped by real-time polymerase chain reactions using the TaqMan assay. The Student T-test was used to compare the variations in DA between the phenotypes "with CL ± P" and "without CL ± P", and the ANOVA two-way test was performed to compare the variations in DA among the genotypes (α = 0.05). A post-hoc analysis was performed using Bonferroni correction.
RESULTS
Two hundred and nine (n = 209) children (100 with CL ± P and 109 without CL ± P) with a mean chronological age of 8.66 years - standard deviation (SD) = 1.92 - were included. The group with CL ± P demonstrated a significantly delayed DA (mean=-0.23; SD = 0.71) compared to the group without CL ± P (mean=-0.01; SD = 0.88) (p = 0.049). Genotype distributions were in Hardy-Weinberg equilibrium. The SNP rs4803455 in TGFB1 was significantly associated with DA variations in children without CL ± P (p < 0.01). In the group with CL ± P, no significant differences in DA were observed among the genotypes.
CONCLUSION
Children with CL ± P presented delayed DA compared with children without CL ± P. The SNP rs4803455 in TGFB1 is associated with variations in DA in children without CL ± P.
背景
患有非综合征性唇裂伴或不伴腭裂（CL±P）的儿童可能存在牙齿发育异常。本横断面研究的目的是比较患有和未患有CL±P的儿童的牙龄（DA），以及编码生长因子的基因中的单核苷酸多态性（SNP）是否与DA变化相关。
方法
招募了年龄在5至14岁之间患有和未患有CL±P的儿童参与本研究。由经过校准的检查人员（kappa>0.80）使用Demirjian等人（1973年）提出的方法评估DA。从颊细胞中提取基因组DNA，并使用TaqMan分析法通过实时聚合酶链反应对表皮生长因子（EGF）-rs4444903和rs2237051、表皮生长因子受体（EGFR）-rs2227983、转化生长因子β1（TGFB1）-rs1800470和rs4803455以及转化生长因子β受体2（TGFBR2）-rs3087465中的SNP进行基因分型。使用学生t检验比较“患有CL±P”和“未患有CL±P”表型之间的DA差异，并进行方差分析双向检验以比较各基因型之间的DA差异（α=0.05）。使用Bonferroni校正进行事后分析。
结果
纳入了209名儿童（n=209）（100名患有CL±P，109名未患有CL±P），平均实足年龄为8.66岁 - 标准差（SD）=1.92。与未患有CL±P的组（平均值=-0.01；SD=0.88）相比，患有CL±P的组显示出明显延迟的DA（平均值=-0.23；SD=0.71）（p=0.049）。基因型分布符合哈迪-温伯格平衡。TGFB1中的SNP rs4803455与未患有CL±P的儿童的DA变化显著相关（p<0.01）。在患有CL±P的组中，各基因型之间在DA方面未观察到显著差异。
结论
与未患有CL±P的儿童相比，患有CL±P的儿童DA延迟。TGFB1中的SNP rs4803455与未患有CL±P的儿童的DA变化相关。
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