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CC BY 4.0 · Glob Med Genet 2023; 10(01): 006-011
DOI: 10.1055/s-0042-1760383
Original Article

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

Mahamad Irfanulla Khan 
1   Department of Orthodontics and Dentofacial Orthopedics, The Oxford Dental College, Bangalore, Karnataka, India
,
Prashanth C.S 
2   Department of Orthodontics and Dentofacial Orthopedics, DAPM R.V Dental College, Bangalore, Karnataka, India
,
Mohammed S. Mustak 
3   Department of Applied Zoology Mangalore University, Mangalore, Karnataka, India
,
Sheikh Nizamuddin 
4   Department of Urology, Medical Center-University of Freiburg, Germany
5   German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany
› Author Affiliations Funding None.
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Abstract

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.

Keywords

Cleft lip and/or cleft palate - SNP - genotyping - MassARRAY


Publication History

Article published online:
24 January 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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