Ph.D. Defence of Ms. Wajiha Naeem
CONDUCTION OF PUBLIC DEFENCE IN RESPECT OF MS. WAJHA NAEEM. PH. D RESEARCH SCHOLAR, CENTRE OF BIOTECHNOLOGY AND MICROBIOLOGY, UNIVERISTY OF PESHAWAR
Date: 21-04-2026
Time: 12:30 noon
Venue: Video Conference Hall
Topic: Molecular Analysis of GNPTAB and NAGPA genes involved in stuttering in Khyber Pakhtunkhwa.
ABSTRACT
Stuttering typically commences in childhood and impacts up to 17% of the population; however, only approximately 1% persist in stuttering throughout adulthood. It is more prevalent in males and can affect emotional well-being. This study sought to examine the polymorphisms of the GNPTAB and NAGPA genes associated with stuttering in the Pakistani population. It also investigated the correlation between these genetic differences and demographic variables as well as stuttering.
Participants with stuttering were sourced from the speech therapy departments of HMC (Hayatabad Medical Complex), QHMC (Qazi Hussain Medical Complex), and AIMC (Abbottabad International Medical and Dental College). The research utilized a stratified randomized selection method, resulting in a final sample of 100 people (69 with stuttering and 31 controls), selected following preliminary estimation via OpenEpi for unpaired case-control studies. The inclusion criteria targeted persons with a verified diagnosis or history of stuttering, excluding those with neurological, physical, or cognitive problems not associated with stuttering. The data collection encompassed the SSI-4 stuttering assessment, blood sampling for DNA extraction, ARMS-PCR primer creation and amplification, and subsequent agarose gel electrophoresis. The Hardy-Weinberg equation (HWE) was utilized to analyze the deviation of GNPTAB and NAGPA gene polymorphisms. Statistical analysis, encompassing chi-square tests, Mann-Whitney U tests, and odds ratio calculations.
Men outnumbered women in all stuttering categories (very light, mild, moderate, and severe). Moderate stuttering was most common among 5–9-year-olds (28%) and schoolchildren (35%). Family history was solely a demographic factor linked to stuttering. Compared to their reference groups, school-going and family-history-stuttering participants had slightly higher probabilities of stuttering. The GNPTAB exon13 gene has more G alleles than A alleles in stuttering instances. Stuttering group chi-square value was 4.22 (P > 0.05), showing non-significant divergence from HWE. In comparison, the control group had a significant divergence from HWE with a chi-square of 18.98 (P < 0.01). With additive model (OR=21, 95% Cl: 2.66-165.37) and codominant model (OR=16, 95% Cl: 2.05-124.66), AG genotype individuals had a significantly significant elevated risk of stuttering. The dominant model shows that AA genotypes are less likely to stammer (OR = 0.09, 95% CI: 0.02–0.33). The connection between GNPTAB exon9 genotypes and stuttering was highly significant (P < 0.01). Only stutterers had GA and AA genotypes. The HWE genotypes GG and AA deviated significantly (X² = 7.11, P < 0.05) from predicted values. The NAGPA TT genotype was more common among stutterers (14.49%) than controls (6.45%). Both stuttering and non-stuttering groups significantly deviated from HWE (P < 0.01). However, NAGPA did not significantly affect stuttering (P > 0.05).
The results also shows that stuttering was more prevalent among males, school-going children, and individuals aged 5–9 years, with a substantial demographic association demonstrated by family history. Genetic analysis identified GNPTAB gene variants, specifically the AG genotype and G allele, as potential risk factors for stuttering, while the NAGPA gene did not exhibit a significant association. High-risk populations, such as young males and children with a family history of stuttering, should priorities early genetic screening and intervention programs. In order to verify gene-stuttering associations and investigate additional SNPs, future research should involve more extensive, ethnically diverse populations.
Keywords: Stuttering, SNPs, GNPTAB, NAGPA, ARMS-PCR