研究孤立性口腔颌面部裂隙与非裂隙面部形态中可能存在的共享单核苷酸多态性。

Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology.

作者信息

Küchler Erika Calvano, Meger Michelle Nascimento, Pires Bruna Correia Rauta, Beisel-Memmert Svenja, Hemming Daniel, Coletta Ricardo D, Scariot Rafaela, Matsumoto Mírian Aiko Nakane, Oliveira Maria Angelica Hueb de Menezes, Kirschneck Christian, Cavalcante-Leão Bianca

机构信息

Department of Orthodontics, Medical Faculty, University Hospital Bonn, Bonn, Germany.

School of Dentistry, Tuiuti University of Paraná, Curitiba, Paraná, Brazil.

出版信息

Front Dent Med. 2025 Apr 15;6:1546295. doi: 10.3389/fdmed.2025.1546295. eCollection 2025.

DOI:10.3389/fdmed.2025.1546295

PMID:40303982

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12037601/

Abstract

INTRODUCTION

Facial morphogenesis is regulated by several cellular interactions that are mediated by numerous morphogenetic signals. Based on the existing evidence, we hypothesize that oral cleft-associated single nucleotide polymorphisms (SNPs) are involved in the normal range of human face development. Therefore, this study aimed to investigate the association between SNPs in oral cleft-related genes and variations in the normal range of facial morphology.

METHOD

A sample of healthy Brazilian teenagers (aged between 11 and 18 years old) were screened and collected. Frontal facial digitized photographs from orthodontic records were used to determine phenotypes, while the DNA extracted from saliva samples was used to investigate the candidate SNPs. Five oral cleft-associated SNPs in (), (), (), (), and () were selected, and allelic discrimination analysis was performed using real-time PCR.

RESULTS

A total of 58 individuals (27 boys and 31 girls) were included. The facial landmarks used for the facial measurements were the trichion (Tr), glabella (G), nassion (N), subnasale (Sn), labrale superior (Ls), labrale inferior (Li), gnathion (Gn), cheilon (Ch), and zygoma (Zg). in was associated with lip proportion, in which individuals with the homozygous GG genotype had a higher Ch-Ch:Ls-Li proportion than the heterozygous AG genotype ( = 0.034). rs1533767 in was associated with G-Sn:Sn-Gn ( = 0.028), N-Gn:Sn-Gn ( = 0.035), and Sn-Gn:Tr-Gn ( = 0.039).

CONCLUSION

Our study supported the hypothesis that oral cleft-associated SNPs are involved in the normal range of human facial morphology.

摘要

引言

面部形态发生受多种细胞相互作用调节，这些相互作用由众多形态发生信号介导。基于现有证据，我们推测与口腔裂隙相关的单核苷酸多态性（SNP）参与了人类面部正常发育范围。因此，本研究旨在调查口腔裂隙相关基因中的SNP与面部形态正常范围内变异之间的关联。

方法

对巴西健康青少年（年龄在11至18岁之间）样本进行筛选和收集。利用正畸记录中的正面面部数字化照片确定表型，同时从唾液样本中提取的DNA用于研究候选SNP。选择了5个与口腔裂隙相关的SNP，分别位于（）、（）、（）、（）和（）基因中，并使用实时PCR进行等位基因鉴别分析。

结果

共纳入58名个体（27名男孩和31名女孩）。用于面部测量的面部标志点为发际点（Tr）、眉间点（G）、鼻根点（N）、鼻下点（Sn）、上唇缘点（Ls）、下唇缘点（Li）、颌下点（Gn）、口角点（Ch）和颧骨点（Zg）。基因中的与唇部比例相关，纯合GG基因型个体的Ch-Ch:Ls-Li比例高于杂合AG基因型个体（P = 0.034）。基因中的rs1533767与G-Sn:Sn-Gn（P = 0.028）、N-Gn:Sn-Gn（P = 0.035）和Sn-Gn:Tr-Gn（P = 0.039）相关。