非综合征性唇裂和/或腭裂个体MSX1基因多态性与上颌侧切牙发育不全的关联

Q1 Medicine

Journal of oral biology and craniofacial research Pub Date : 2025-03-01 DOI:10.1016/j.jobcr.2025.02.003

Dhanyashri Kamalakannan , Vignesh Kailasam , Sridevi Padmanaban , Solomon F.D. Paul , Gnanasambandan Ramanathan

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引用次数: 0

摘要

研究MSX1基因多态性与南印度人群伴或不伴非综合征性唇腭裂（NSCL/P）的上颌侧切牙发育之间的关系。方法将研究对象分为4组：ⅰ组25例单侧/双侧先天性缺失上颌侧切牙，无其他恒牙缺失的唇腭裂（NSCL/P）患者，ⅱ组25例单侧/双侧先天性缺失上颌侧切牙，ⅲ组25例单侧/双侧先天性缺失上颌侧切牙及对照组。25名健康个体，牙齿发育正常，无口腔面部缺陷。MSX1基因多态性rs12532、rs1042484和rs11726039采用Sanger测序法，采用预先设计的引物，使用ABI 3730 DNA测序仪进行基因分型。使用皮尔逊卡方分析检验相关性。结果MSX1基因rs12532、rs1042484和rs11726039 3个snp均存在多态性。rs12532与nsl /P患者上颌侧切牙发育不全的风险降低相关。rs1042484与无上颌侧切牙发育不全受试者的NSCL/P有显著相关性。rs11726039与伴或不伴上颌侧切牙发育不全的NSCL/P有显著相关性。结论本研究在南印度人群中揭示了nsl /P患者MSX1基因多态性与牙齿发育之间的显著相关性。关键词：MSX1，非综合征性唇腭裂，侧切牙发育不全。

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Association of MSX1 gene polymorphisms and maxillary lateral incisor agenesis in Non-syndromic cleft lip and/or palate individuals

Background

To investigate the association between MSX1 gene polymorphisms and maxillary lateral incisor agenesis with and without Non Syndromic Cleft lip and palate (NSCL/P) in a South Indian population.

Methods

The study sample was divided into four groups: Group I: Twenty five Cleft lip and palate (NSCL/P) subjects with unilateral/bilateral congenitally missing maxillary lateral incisors, without agenesis of any other permanent teeth, Group II: Twenty five individuals with NSCL/P and a full complement of teeth, Group III: Twenty five non-cleft individuals with unilateral/bilateral congenitally missing maxillary lateral incisors and Control group: Twenty five healthy individuals with normal teeth development and without orofacial defects. MSX1 gene polymorphisms rs12532, rs1042484 and rs11726039 were genotyped by Sanger sequencing method with pre designed primer using ABI 3730 DNA sequencer. Associations were tested using Pearson Chi-square analysis.

Results

The three SNPs, rs12532, rs1042484 and rs11726039 of MSX1 gene exhibited polymorphism. rs12532 was associated with reduced risk of maxillary lateral incisor agenesis in NSCL/P subjects. rs1042484 had significant association with the NSCL/P without maxillary lateral incisor agenesis (full complement of teeth) subjects. rs11726039 showed significant association with NSCL/P with or without maxillary lateral incisor agenesis.

Conclusion

The present study on a South Indian population revealed a significant association between the MSX1 gene polymorphisms and tooth agenesis in NSCL/P subjects. Keywords: MSX1, non syndromic cleft lip and palate, lateral incisor agenesis.

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来源期刊

Journal of oral biology and craniofacial research Medicine-Otorhinolaryngology

CiteScore

4.90

自引率

0.00%

发文量

133

审稿时长

167 days

期刊介绍： Journal of Oral Biology and Craniofacial Research (JOBCR)is the official journal of the Craniofacial Research Foundation (CRF). The journal aims to provide a common platform for both clinical and translational research and to promote interdisciplinary sciences in craniofacial region. JOBCR publishes content that includes diseases, injuries and defects in the head, neck, face, jaws and the hard and soft tissues of the mouth and jaws and face region; diagnosis and medical management of diseases specific to the orofacial tissues and of oral manifestations of systemic diseases; studies on identifying populations at risk of oral disease or in need of specific care, and comparing regional, environmental, social, and access similarities and differences in dental care between populations; diseases of the mouth and related structures like salivary glands, temporomandibular joints, facial muscles and perioral skin; biomedical engineering, tissue engineering and stem cells. The journal publishes reviews, commentaries, peer-reviewed original research articles, short communication, and case reports.