Yadav Juhi, Raghav Pradeep, Mishra Raj Kumar, Upadhyaya Divya Narain, Prasad Veerendra, Chaturvedi Chandra P, Singh Kritanjali
Department of Orthodontics and Dentofacial Orthopedics, Autonomous State Medical College, Auraiya, Auraiya, IND.
Department of Orthodontics, Swami Vivekanand Subharti University, Meerut, IND.
Cureus. 2024 Jul 18;16(7):e64812. doi: 10.7759/cureus.64812. eCollection 2024 Jul.
Cleft lip and palate (CLP) is a common congenital anomaly characterized by incomplete fusion of the lip and/or palate during embryonic development. The etiology of CLP is multifactorial, involving genetics and different environmental factors. The methylenetetrahydrofolate reductase () gene has been proposed as a candidate gene associated with CLP due to its involvement in folate metabolism and DNA methylation processes. However, the association between gene variants and CLP in non-syndromic patients in the North Indian population remains unclear.
This research aimed to see the association between gene polymorphisms in non-syndromic patients with CLP in the North Indian population.
A case-control observational design comprised 50 CLP patients (cases) and 50 healthy individuals without CLP (controls). Blood samples were collected from patients visiting two hospitals. Genomic DNA was extracted from collected peripheral blood samples, and the genotyping of gene polymorphisms (specifically, C677T) was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The allelic and genotypic frequencies of gene variants were compared between cases and controls using appropriate statistical tests.
This research revealed a significant association between gene polymorphism and CLP in the North Indian population. The odds for the genotypes reach statistical significance, suggesting that the gene variant may play a major role in this population's susceptibility to non-syndromic CLP.
This study provides evidence for a linkage between the gene C677T polymorphism and an increased risk of CLP in non-syndromic patients in the North Indian population. These findings do support the involvement of gene variants in the etiology of CLP. In the future, more research is warranted to elucidate the underlying mechanisms linking gene variants to CLP and to explore potential gene-environment interactions in this context.
唇腭裂（CLP）是一种常见的先天性异常，其特征是在胚胎发育过程中唇和/或腭融合不完全。CLP的病因是多因素的，涉及遗传和不同的环境因素。亚甲基四氢叶酸还原酶（）基因因其参与叶酸代谢和DNA甲基化过程而被提出作为与CLP相关的候选基因。然而，在北印度人群的非综合征患者中，该基因变体与CLP之间的关联仍不清楚。
本研究旨在探讨北印度人群非综合征性CLP患者中该基因多态性之间的关联。
采用病例对照观察设计，包括50例CLP患者（病例组）和50例无CLP的健康个体（对照组）。从两家医院就诊的患者中采集血样。从采集的外周血样本中提取基因组DNA，并使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析对该基因多态性（具体为C677T）进行基因分型。使用适当的统计检验比较病例组和对照组之间该基因变体的等位基因和基因型频率。
本研究揭示了北印度人群中该基因多态性与CLP之间存在显著关联。基因型的优势比具有统计学意义，表明该基因变体可能在该人群对非综合征性CLP的易感性中起主要作用。
本研究为北印度人群非综合征患者中该基因C677T多态性与CLP风险增加之间的联系提供了证据。这些发现确实支持该基因变体参与CLP的病因。未来，有必要进行更多研究以阐明该基因变体与CLP之间的潜在机制，并在此背景下探索潜在的基因-环境相互作用。
