New insights into the genetics of mandibular retrognathism: novel candidate genes,Journal of Orofacial Orthopedics

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New insights into the genetics of mandibular retrognathism: novel candidate genes
Journal of Orofacial Orthopedics ( IF 1.3 ) Pub Date : 2024-01-31 , DOI: 10.1007/s00056-023-00512-z
Eva Paddenberg-Schubert ₁ , Erika Küchler ₂ , Caio Luiz Bitencourt Reis ₃ , Alice Corrêa Silva-Sousa ₄ , Christian Kirschneck ₂

Affiliation

Purpose

Mandibular retrognathism (MR) is a common skeletal malocclusion in humans with a strong genetic component. Single nucleotide polymorphisms (SNPs) in genes encoding epidermal growth factor (EGF) and EGF receptor (EGFR) could be involved in the etiology of mandibular retrognathism. Therefore, in this study, we investigated whether SNPs in the genes encoding for EGF and EGFR are associated with MR in German teenagers.

Methods

This nested case–control study evaluated German orthodontic patients, aged 10–18 years. DNA, which was isolated from buccal epithelial cells using two cytobrushes, was used for genotyping analysis and digital pretreatment lateral cephalograms were examined to calculate SNB and ANB. Patients with a retrognathic mandible (SNB < 78°) were included as cases, while patients with an orthognathic mandible (SNB = 78–82°) were included as controls. Four SNPs in the genes encoding for EGF and EGFR were chosen and genotyped using real-time PCR. Allele, genotype, and haplotype frequency were compared across groups (α = 5%).

Results

Finally, 119 patients were included in this study (45 orthognathic mandible, 74 retrognathic mandible). The minor allele G in rs4444903 (EGF) was statistically more frequent in individuals with an orthognathic mandible (p = 0.008). The haplotype formed by the mutant alleles for rs4444903|rs2237051 (EGF; G|A) was statistically more frequent in the orthognathic mandible group (p = 0.007). The SNPs rs4444903 and rs2237051 in EGF, and rs2227983 in EGFR were statistically associated with a decreasing risk of developing a retrognathic mandible according to univariate and multivariate statistical analysis (p < 0.05).

Conclusion

SNPs in EGF (rs4444903 and rs2237051) and EGFR (rs2227983) were associated with MR in our German sample and could be genetic biomarkers for early and individualized diagnostic identification of retrognathic mandibular development by means of genetic screening tests.

中文翻译：

下颌后缩遗传学的新见解：新的候选基因

目的

下颌后缩（MR）是人类常见的骨骼错牙合畸形，具有很强的遗传因素。编码表皮生长因子（EGF）和EGF受体（EGFR）的基因中的单核苷酸多态性（SNP）可能与下颌后缩的病因有关。因此，在本研究中，我们调查了编码EGF和EGFR的基因中的 SNP 是否与德国青少年的 MR 相关。

方法

这项巢式病例对照研究评估了 10-18 岁的德国正畸患者。使用两个细胞刷从颊上皮细胞中分离出 DNA，用于基因分型分析，并检查数字预处理侧位头影片以计算 SNB 和 ANB。下颌后缩（SNB < 78°）的患者被纳入病例，而下颌正颌（SNB = 78–82°）的患者被纳入对照。选择编码EGF和EGFR的基因中的四个 SNP，并使用实时 PCR 进行基因分型。比较各组的等位基因、基因型和单倍型频率 (α = 5%)。

结果

最终，本研究纳入 119 例患者（45 例正颌下颌，74 例后颌下颌）。 rs4444903 ( EGF ) 中的小等位基因 G 在具有正颌下颌骨的个体中出现的频率在统计学上更为常见 ( p = 0.008)。由 rs4444903|rs2237051 ( EGF ;G|A) 突变等位基因形成的单倍型在正颌下颌组中在统计上更为常见 ( p = 0.007)。根据单变量和多变量统计分析， EGF中的 SNP rs4444903 和 rs2237051 以及EGFR中的 rs2227983 与下颌后缩风险降低存在统计学相关性 ( p < 0.05)。