GNPTAB AND NAGPA GENE POLYMORPHISM LINKED TO STUTTERING: A CASE CONTROL STUDY IN PAKISTANI POPULATION
Main Article Content
Keywords
GNPTAB, NAGPA, ARMS PCR, SNPs, Stuttering
Abstract
Objective
This study examined GNPTAB and NAGPA gene polymorphisms associated with stuttering in Pakistani population.
Methodology
This case control study was initiated by screening stuttering in samples using SSI-4 tool. Individuals who suffered physical abnormalities, incomplete data of participants (SSI-4 and PCR bands) were excluded. Total 100 individuals including 69 stuttering and 31 non-stuttering participants data was recorded. Statistical analysis included Hardy-Weinberg Equilibrium, Chi square of homogeneity and odds ratios with 95% Confidence intervals.
Results
Results showed significant (P<0.05) association between family history and stuttering, with 88% of participants reporting a familial history of the condition. The GNPTAB SNP distribution for stuttering participants showed no deviation (via Hardy-Weinberg Equilibrium) in the Pakistani population. GNPTAB polymorphisms distribution showed a highly significant association with stuttering (P<0.01), with the AG genotype significantly increasing the risk (OR = 21, 95% CI: 2.66–165.37). In contrast, NAGPA genotypes showed no significant association (P>0.05) with stuttering. The chi-square test for homogeneity revealed a highly significant (P<0.01) difference in genotype between stuttering and non-stuttering groups. The dominant genotype (AA) reduced the risk of stuttering, whereas heterozygous genotypes GNPTAB SNP (A>G) increased the risk of stuttering. For NAGPA gene, the dominant genotype (CC) appeared protective.
Conclusion
Stuttering showed a strong association with family history and GNPTAB gene polymorphisms. Future research should validate the GNPTAB and NAGPA association across diverse populations and explore gene-environment interactions, epigenetics, neuroimaging and transcriptomics to refine stuttering models.
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Wajiha Naeem
Department of Biotechnology, University of Peshawar, Khyber Pakhtunkhwa, Pakistan
Bashir Ahmad
Department of Biotechnology, University of Peshawar, Khyber Pakhtunkhwa, Pakistan
Bibi Hajira Ishaq
Khyber Medical College, Peshawar, Khyber Pakhtunkhwa, Pakistan
Farzana Hakim
Foundation University Medical College, Islamabad, Pakistan