口腔裂痕,包括唇裂（CL），腭裂(CP),唇腭裂（CLP），是人类面部最常见的先天性异常类型。各种遗传和环境因素在口腔裂隙的发展中起作用。一些研究表明，PAX7基因和8q24区域与世界各地不同人群的这些口腔裂口有关。然而,目前尚无关于PAX7基因与8q24区域核苷酸变异体之间的可能联系以及印度人群中发生非综合征性口裂(NSOC)的风险的报道.因此，本研究旨在使用病例-亲本三重奏设计,检验8q24区域的PAX7基因单核苷酸多态性(SNPs)rs880810,rs545793,rs80094639和rs13251901之间的可能关联.从CLP中心选择了40个案例-父母三重奏。从病例及其父母中分离基因组DNA。通过MassARRAY技术对rs880810、rs545793、rs80094639和rs13251901进行基因分型。采用PLINK软件进行统计分析。测试所有SNP的Hardy-Weinberg平衡。没有发现任何SNP的统计学意义，因为没有一个基因分型的SNP显示p值小于0.05。因此，PAX7基因的rs880810、rs545793和rs80094639，8q24地区的rs13251901与印度人口的NSOC无关。
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
PAX7 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
PAX7 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 PAX7 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 p -value of less than 0.05. Hence, the rs880810, rs545793, and rs80094639 of the
PAX7 gene, and rs13251901 of the 8q24 region are not associated with NSOC in the Indian population.
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