下颌后缩遗传学的新见解:新型候选基因。

IF 1.3 4区 医学 Q3 DENTISTRY, ORAL SURGERY & MEDICINE
Eva Paddenberg-Schubert, Erika Küchler, Caio Luiz Bitencourt Reis, Alice Corrêa Silva-Sousa, Christian Kirschneck
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引用次数: 0

摘要

目的:下颌后突(MR)是人类常见的骨骼错位,具有很强的遗传因素。编码表皮生长因子(EGF)和表皮生长因子受体(EGFR)的基因中的单核苷酸多态性(SNPs)可能与下颌后突的病因有关。因此,在本研究中,我们调查了编码表皮生长因子和表皮生长因子受体的基因中的 SNPs 是否与德国青少年的 MR 相关:这项巢式病例对照研究评估了 10-18 岁的德国正畸患者。使用两支细胞刷从颊上皮细胞中分离出的 DNA 用于基因分型分析,并对数字化预处理侧位头影进行检查,以计算 SNB 和 ANB。下颌后缩的患者(SNB 结果):最后,本研究共纳入 119 名患者(45 名正位下颌畸形患者,74 名后位下颌畸形患者)。据统计,rs4444903(EGF)的小等位基因 G 在下颌正畸患者中更为常见(p = 0.008)。rs4444903|rs2237051(EGF;G|A)的突变等位基因所形成的单倍型在下颌正畸组中的出现频率更高(p = 0.007)。根据单变量和多变量统计分析,EGF 中的 SNPs rs4444903 和 rs2237051,以及 EGFR 中的 SNPs rs2227983 与下颌后缩发病风险的降低有统计学关联(p 结论:EGF 中的 SNPs rs4444903 和 rs2237051,以及 EGFR 中的 SNPs rs2227983 与下颌后缩发病风险的降低有统计学关联:在我们的德国样本中,EGF(rs4444903 和 rs2237051)和 EGFR(rs2227983)中的 SNPs 与 MR 相关,可作为遗传生物标志物,通过基因筛查测试对下颌骨后畸形进行早期和个体化诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

New insights into the genetics of mandibular retrognathism: novel candidate genes.

New insights into the genetics of mandibular retrognathism: novel candidate genes.

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.

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来源期刊
CiteScore
3.90
自引率
0.00%
发文量
64
审稿时长
>12 weeks
期刊介绍: The Journal of Orofacial Orthopedics provides orthodontists and dentists who are also actively interested in orthodontics, whether in university clinics or private practice, with highly authoritative and up-to-date information based on experimental and clinical research. The journal is one of the leading publications for the promulgation of the results of original work both in the areas of scientific and clinical orthodontics and related areas. All articles undergo peer review before publication. The German Society of Orthodontics (DGKFO) also publishes in the journal important communications, statements and announcements.
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