Khan Mahamad Irfanulla, Cs Prashanth, Srinath N, Neela Praveen K, Mohiuddin Mohammed K
Department of Orthodontics and Dentofacial Orthopedics, The Oxford Dental College, Bangalore, Karnataka, India.
Department of Orthodontics and Dentofacial Orthopedics, D.A Pandu Memorial R.V Dental College, Bangalore, Karnataka, India.
Glob Med Genet. 2023 Mar 28;10(1):34-37. doi: 10.1055/s-0043-1764399. eCollection 2023 Jan.
Oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are the most common types of congenital anomalies of the human face. Various genetic and environmental factors play a role in developing oral clefts. Several studies have shown the association of the gene and the 8q24 region with these oral clefts in different populations worldwide. However, there are no reported studies on the possible connection between the gene and the 8q24 region nucleotide variants and the risk of developing nonsyndromic oral clefts (NSOC) in the Indian population. Hence, this study aimed to test the possible association between gene single-nucleotide polymorphisms (SNPs) rs880810, rs545793,rs80094639, and rs13251901 of the 8q24 region using a case-parent trio design. Forty case-parent trios were selected from the CLP center. Genomic DNA was isolated from the cases and their parents. The rs880810, rs545793, rs80094639, and rs13251901 were genotyped by the MassARRAY technique. PLINK software was used for statistical analysis. All the SNPs were tested for Hardy-Weinberg equilibrium. No statistical significance was found with any SNPs, as none of the genotyped SNPs showed a -value of less than 0.05. Hence, the rs880810, rs545793, and rs80094639 of the gene, and rs13251901 of the 8q24 region are not associated with NSOC in the Indian population.
口腔裂隙，包括唇裂（CL）、腭裂（CP）和唇腭裂（CLP），是人类面部最常见的先天性畸形类型。多种遗传和环境因素在口腔裂隙的发生中起作用。多项研究表明，在全球不同人群中，该基因与8q24区域与这些口腔裂隙有关联。然而，在印度人群中，尚未有关于该基因与8q24区域核苷酸变异以及非综合征性口腔裂隙（NSOC）发生风险之间可能联系的报道。因此，本研究旨在采用病例 - 父母三联体设计，检测该基因单核苷酸多态性（SNP）rs880810、rs545793、rs80094639和8q24区域的rs13251901之间的可能关联。从唇腭裂中心选取了40个病例 - 父母三联体。从病例及其父母中分离出基因组DNA。通过MassARRAY技术对rs880810、rs545793、rs80094639和rs13251901进行基因分型。使用PLINK软件进行统计分析。对所有SNP进行哈迪 - 温伯格平衡检验。未发现任何SNP具有统计学意义，因为所有基因分型的SNP的P值均未显示小于0.05。因此，该基因的rs880810、rs545793和rs80094639以及8q24区域的rs13251901与印度人群中的非综合征性口腔裂隙无关。
