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使用全外显子组测序对非综合征性侧切牙过小进行基因分析。

Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing.

作者信息

Choi Junglim, Kim Sungnam, Ahn Hyunsoo, Kim Donghyo, Cho Sung-Won, Kim Sanguk, Lee Jae Hoon

机构信息

Department of Advanced General Dentistry, School of Dentistry, Dankook University, Cheonan-si, Chungcheongnam-do, Republic of Korea.

Department of Prosthodontics, Yonsei University College of Dentistry, Seoul, Republic of Korea.

出版信息

Front Genet. 2025 Aug 13;16:1572966. doi: 10.3389/fgene.2025.1572966. eCollection 2025.


DOI:10.3389/fgene.2025.1572966
PMID:40881174
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12380783/
Abstract

INTRODUCTION: Although peg-shaped lateral incisors are a common dental anomaly, the genetic mechanisms governing peg lateralis are poorly understood, particularly in cases where other associated anomalies are absent. Here, we aimed to identify potential candidate genes contributing to the development of non-syndromic peg lateralis via whole-exome sequencing (WES). METHODS: Saliva samples were collected from 20 unrelated Korean individuals with non-syndromic peg lateralis. WES was conducted on these samples, and variants with -value <0.05, false discovery rate <10, and odds ratio >1 were filtered. In-silico mutation impact analysis was performed using Polymorphism Phenotyping v2, sorting intolerant from the tolerant, and integrated score of co-evolution and conservation algorithms. RESULTS: We identified a heterozygous allele for and , which encodes the otopetrin-1 protein, a proton channel, in all 20 individuals. Gene ontology analysis revealed an association between candidate genes and peg lateralis. We further confirmed that the peg lateralis candidate variants of the same genotype were found in the family members of three individuals. CONCLUSION: The results suggest a possible function of these newly identified genes in the development of peg lateralis, which remains to be defined. This study may provide new insights into the genetic basis of non-syndromic peg lateralis, establishing a basis for the further analysis of the disease-associated genes identified herein.

摘要

引言:尽管钉状侧切牙是一种常见的牙齿异常,但控制钉状侧切牙的遗传机制仍知之甚少,尤其是在没有其他相关异常的情况下。在这里,我们旨在通过全外显子组测序(WES)确定导致非综合征性钉状侧切牙发育的潜在候选基因。 方法:从20名患有非综合征性钉状侧切牙的无关韩国个体中收集唾液样本。对这些样本进行WES,并筛选出P值<0.05、错误发现率<10且优势比>1的变异。使用多态性表型分析v2、从耐受中筛选不耐受以及共进化和保守算法的综合评分进行计算机突变影响分析。 结果:我们在所有20名个体中鉴定出了编码质子通道耳钙蛋白-1的基因的杂合等位基因。基因本体分析揭示了候选基因与钉状侧切牙之间的关联。我们进一步证实,在三个个体的家庭成员中发现了相同基因型的钉状侧切牙候选变异。 结论:结果表明这些新鉴定的基因在钉状侧切牙发育中可能具有功能,有待进一步确定。本研究可能为非综合征性钉状侧切牙的遗传基础提供新的见解,为进一步分析本文鉴定的疾病相关基因奠定基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0c/12380783/5caa7bad6478/fgene-16-1572966-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0c/12380783/3a63c804f285/fgene-16-1572966-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0c/12380783/8e1d8796d032/fgene-16-1572966-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0c/12380783/c50092911738/fgene-16-1572966-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0c/12380783/5caa7bad6478/fgene-16-1572966-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0c/12380783/3a63c804f285/fgene-16-1572966-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0c/12380783/8e1d8796d032/fgene-16-1572966-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0c/12380783/c50092911738/fgene-16-1572966-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb0c/12380783/5caa7bad6478/fgene-16-1572966-g004.jpg

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本文引用的文献

[1]
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