Association of MAPK4 and SOX1-OT gene polymorphisms with cleftlip palate in multiplex families: A genetic study

Cleft lip and/or cleft palate (CL/P) is one of the most common congenital anomalies of the human face with a complex etiology involving multiple genetic and environmental factors. Several studies have shown the association of the paired box 7 (PAX7) gene with CL/P in different populations worldwide. However, the current literature reveals no reported case-parent trio studies to evaluate the association between the PAX7 gene and the risk of nonsyndromic cleft lip and/or palate (NSCL/P) in the Indian population. Hence, the purpose of this study was to assess the PAX7 gene single nucleotide polymorphisms (SNPs) in the etiology of NSCL/P among the Indian cleft trios. Forty Indian case-parent trios of NSCL/P were included. The cases and their parents' genomic DNA were extracted. The SNPs rs9439714, rs1339062, rs6695765, rs742071, and rs618941of the PAX7 gene were genotyped using the Agena Bio MassARRAY analysis. The allelic transmission disequilibrium test was performed using PLINK software while pair-wise linkage disequilibrium by the Haploview program. The SNP rs9439714 showed evidence of association (p-value = 0.02, odds ratio = 3) with NSCL/P. Considering the parent-of-origin effects, the SNPs rs9439714 and rs618941 showed an excess maternal transmission of allele C at rs9439714 (p-value = 0.05) and G allele at rs618941 (p-value = 0.04). The results of the present study suggested that the SNPs rs9439714 and rs618941 showed an excess maternal transmission of alleles suggestive of the possible role of the PAX7 gene involvement in the etiology of NSCL/P in the Indian population.

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“…The variations in the results could be attributed to geographical differences, epigenetic factors, gene–environment interaction, etc. 31 …”

Section: Discussionmentioning

confidence: 99%

“…The variations in the results could be attributed to geographical differences, epigenetic factors, gene-environment interaction, etc. 31 In the present study, 40 case-parent trios were included. The SNPs rs9439714, rs1339062, rs6695765, rs742071, and rs618941 of PAX7 were genotyped using the Agena Bio MassARRAY platform.…”

Section: Discussionmentioning

confidence: 99%

Maternal Transmission of the PAX7 Single Nucleotide Polymorphisms among Indian Cleft Trios

Khan

Cs²,

Mustak

et al. 2023

Glob Med Genet

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“…The family studies for the Indian population reported that several genes such as CRISPLD2, RUNX2, SOX1-OT, MAPK4, CTIF, MYO5B, SMAD7, LOXHD1, and SKA1 are not associated with NSCLP in Indian multiplex families. [15][16][17] However, there are no reported case-parent trio studies of the PAX7 gene in the Indian population. Case-parent trio design studies are generally used in genetics, in which the affected children and their parents (father and mother) are genotyped.…”

Section: Discussionmentioning

confidence: 99%

Role of PAX7 Gene rs766325 and rs4920520 Polymorphisms in the Etiology of Non-syndromic Cleft Lip and Palate: A Genetic Study

Khan

Cs²,

Srinath

2022

Glob Med Genet

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Non-syndromic cleft lip and palate (NSCLP) is one of the most common birth defects in humans with an overall prevalence of ∼1 in 700 live births around the world. The etiology of NSCLP is complex involving multiple genes, environmental factors, and gene-to-gene interactions. Several genome-wide associations (GWA) studies have shown the association of the paired box 7 (PAX7) gene in the etiology of cleft lip and palate in different populations worldwide. However, there are no reported studies on the association between the rs766325 and rs4920520 polymorphisms and the risk of developing NSCLP in the Indian population. Hence, the present study aimed to test for the probable association between rs766325 and rs4920520 polymorphisms among NSCLP Indian population using a case-parent trio design. Forty case-parent trios were selected from the cleft lip and palate center based on the inclusion and exclusion criteria. Genomic DNA was isolated from the cases and their parents. The rs766325 and rs4920520 polymorphisms of the PAX7 gene were analyzed for their association using the MassARRAY analysis. The statistical analysis was done using the PLINK software. The rs766325 and rs4920520 polymorphisms were tested for the Hardy–Weinberg equilibrium. None of the polymorphisms showed any statistical significance. Hence, the rs766325 and rs4920520 polymorphisms of the PAX7 gene were found to be not associated with NSCLP in the Indian case-parent trios.

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“…In contrast, 30% of clefts are syndromic and are associated with a few other developmental anomalies. 25 …”

Section: Epidemiologymentioning

confidence: 99%

“…In contrast, 30% of clefts are syndromic and are associated with a few other developmental anomalies. 25 The frequency of occurrence of OFC differs with regard to gender and side of clefting. Cleft lip is more common in males at a 2:1 male to female ratio, whereas a cleft palate is more common in females.…”

Section: Introductionmentioning

confidence: 99%

Genetic Factors in Nonsyndromic Orofacial Clefts

Khan

Cs²,

Srinath

2020

Global Medical Genetics

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Orofacial clefts (OFCs) are the most common congenital birth defects in humans and immediately recognized at birth. The etiology remains complex and poorly understood and seems to result from multiple genetic and environmental factors along with gene–environment interactions. It can be classified into syndromic (30%) and nonsyndromic (70%) clefts. Nonsyndromic OFCs include clefts without any additional physical or cognitive deficits. Recently, various genetic approaches, such as genome-wide association studies (GWAS), candidate gene association studies, and linkage analysis, have identified multiple genes involved in the etiology of OFCs.This article provides an insight into the multiple genes involved in the etiology of OFCs. Identification of specific genetic causes of clefts helps in a better understanding of the molecular pathogenesis of OFC. In the near future, it helps to provide a more accurate diagnosis, genetic counseling, personalized medicine for better clinical care, and prevention of OFCs.

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Association of MAPK4 and SOX1-OT gene polymorphisms with cleftlip palate in multiplex families: A genetic study

Cited by 8 publications

References 27 publications

Maternal Transmission of the PAX7 Single Nucleotide Polymorphisms among Indian Cleft Trios

Maternal Transmission of the PAX7 Single Nucleotide Polymorphisms among Indian Cleft Trios

Role of PAX7 Gene rs766325 and rs4920520 Polymorphisms in the Etiology of Non-syndromic Cleft Lip and Palate: A Genetic Study

Genetic Factors in Nonsyndromic Orofacial Clefts

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