Meta-analysis and systematic review for the genetic basis of cleft lip and palate

Q1 Medicine

Journal of oral biology and craniofacial research Pub Date : 2025-01-01 DOI:10.1016/j.jobcr.2024.12.012

Wafaa Yahia Alghonemy , Mohamed Gaber Ashmawy

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引用次数: 0

Abstract

Cleft lip and palate (CLP) are a usually inherited anomaly described as a gap in the oral cavity's upper lip and/or roof. The etiology of CLP involves both genetic and environmental factors. The current study aimed to examine the genetic basis of nonsyndromic (NS) CLP (NSCL/P) and its association with specific genetic polymorphisms. We conducted a meta-analysis and systematic review of seven articles, which provided information on the correlation between genes and NSCL/P risk.

Our results proved that the MTHFR c.677C > T polymorphism was correlated with the risk of NSCL/P, favoring the control group in the CC genotype and the cases group in the CT genotype. The TT genotype favored the control group. Additionally, the MTHFD1 1958G > A polymorphism was correlated with the high NSCL/P risk in children. However, the MTHFR C677T polymorphism did not show a significant correlation with NSCL/P risk in the analysis, although it was correlated with the high risk in specific populations.

These results contribute to our knowledge about the genetic causes of NSCL/P and highlight the importance of specific genetic polymorphisms in its development. Further research is needed to explore the genetic mechanisms underlying NSCL/P in different populations and to elucidate its implications for diagnosis, treatment, and prevention strategies.

Abstract Image

查看原文本刊更多论文

唇腭裂遗传基础的meta分析与系统综述。

唇腭裂（CLP）通常是一种遗传性异常，描述为口腔上唇和/或上颚的间隙。CLP的病因包括遗传和环境因素。本研究旨在探讨非综合征型（NS） CLP （NSCL/P）的遗传基础及其与特定遗传多态性的关系。我们对7篇文章进行了荟萃分析和系统综述，这些文章提供了基因与nsl /P风险之间相关性的信息。我们的研究结果证明MTHFR c.677C > T多态性与nsl /P的发生风险相关，CC基因型的对照组和CT基因型的病例组的多态性更有利。TT基因型对对照组有利。此外，MTHFD1 1958G > A多态性与儿童高nsl /P风险相关。然而，MTHFR C677T多态性在分析中并未显示出与NSCL/P风险的显著相关性，尽管它在特定人群中与高风险相关。这些结果有助于我们了解nsl /P的遗传原因，并强调了特定遗传多态性在其发展中的重要性。需要进一步的研究来探索不同人群中NSCL/P的遗传机制，并阐明其对诊断、治疗和预防策略的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.