Several genes have been implicated in the etiology of cleft lip palate (CLP). Although genes such as BMP4, RUNX2, PAX7, and TGFB3 have been studied in various populations, their role in familial cases within the Indian population remains unexplored. Hence, the current research was conducted to understand whether BMP4, RUNX2, PAX7, and TGFB3 gene polymorphisms are involved in the etiology of Non-Syndromic Cleft Lip Palate (NSCLP) in Indian familial cases. Twenty multiplex families affected by NSCLP were selected for the research, with 50 NSCLP patients and 38 unaffected subjects from these families. Polymorphisms rs2819861 of RUNX2, rs17563 of BMP4, rs2743218 of PAX7 and rs2268626 of TGFB3, which were considered high-risk in a different population, were analyzed for their role in Indian families. The DNA was extracted from each participant using the salting-out method. The isolated DNA was sent for genetic analysis by Single Nucleotide Polymorphism (SNP) genotyping using the MassArray method. The Hardy-Weinberg equilibrium (HWE) was computed using a genotype distribution, the PLINK software was utilized to make statistical comparisons, and allelic associations were analyzed for the selected polymorphisms. All polymorphisms followed the HWE. None of the polymorphisms on these four genes showed a significant p-value in the allelic association. Therefore, no discernible variation in the allelic frequencies existed between the healthy controls and the NSCLP patients. The odds ratios were 1.28, 0.83, 0.37, and 1.01 for polymorphisms rs2819861, rs17563, rs2743218, and rs2268626, respectively. The current study indicates that the polymorphisms rs2819861 of RUNX2, rs17563 of BMP4, rs2743218 of PAX7, and rs2268626 of TGFB3 were not associated with increased risk of NSCLP among the Indian population.
Citation: Praveen Kumar Neela, Rajeshwari B.V, Mahamad Irfanulla Khan, Shahistha Parveen Dasnadi, Gosla Srinivas Reddy, Akhter Husain, Vasavi Mohan. Genetic influences on non-syndromic cleft lip palate: The impact of BMP4, RUNX2, PAX7, and TGFB3 allelic variations[J]. AIMS Molecular Science, 2024, 11(4): 322-329. doi: 10.3934/molsci.2024019
Several genes have been implicated in the etiology of cleft lip palate (CLP). Although genes such as BMP4, RUNX2, PAX7, and TGFB3 have been studied in various populations, their role in familial cases within the Indian population remains unexplored. Hence, the current research was conducted to understand whether BMP4, RUNX2, PAX7, and TGFB3 gene polymorphisms are involved in the etiology of Non-Syndromic Cleft Lip Palate (NSCLP) in Indian familial cases. Twenty multiplex families affected by NSCLP were selected for the research, with 50 NSCLP patients and 38 unaffected subjects from these families. Polymorphisms rs2819861 of RUNX2, rs17563 of BMP4, rs2743218 of PAX7 and rs2268626 of TGFB3, which were considered high-risk in a different population, were analyzed for their role in Indian families. The DNA was extracted from each participant using the salting-out method. The isolated DNA was sent for genetic analysis by Single Nucleotide Polymorphism (SNP) genotyping using the MassArray method. The Hardy-Weinberg equilibrium (HWE) was computed using a genotype distribution, the PLINK software was utilized to make statistical comparisons, and allelic associations were analyzed for the selected polymorphisms. All polymorphisms followed the HWE. None of the polymorphisms on these four genes showed a significant p-value in the allelic association. Therefore, no discernible variation in the allelic frequencies existed between the healthy controls and the NSCLP patients. The odds ratios were 1.28, 0.83, 0.37, and 1.01 for polymorphisms rs2819861, rs17563, rs2743218, and rs2268626, respectively. The current study indicates that the polymorphisms rs2819861 of RUNX2, rs17563 of BMP4, rs2743218 of PAX7, and rs2268626 of TGFB3 were not associated with increased risk of NSCLP among the Indian population.
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Praveen Kumar Neela, Rajeshwari B.V, Mahamad Irfanulla Khan, Shahistha Parveen Dasnadi, Gosla Srinivas Reddy, Akhter Husain, Vasavi Mohan. Genetic influences on non-syndromic cleft lip palate: The impact of BMP4, RUNX2, PAX7, and TGFB3 allelic variations[J]. AIMS Molecular Science, 2024, 11(4): 322-329. doi: 10.3934/molsci.2024019
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