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Background <p>Pro-apoptotic BAX protein plays a crucial role in mitochondrial-dependent apoptosis regulation. Single nucleotide variants (SNVs) in the <i>BAX</i> gene may serve as genetic risk markers for predicting the occurrence of cancer susceptibility and defining high-risk individuals. The aim of this study was to investigate the association of the <i>BAX</i> rs4645878 variant with papillary thyroid carcinoma (PTC) risk in a group of Egyptian patients.</p> Methods <p>The study was conducted on 50 PTC patients, 50 patients with non-malignant thyroid disease and 50 healthy individuals as controls. The genotyping of the <i>BAX</i> rs4645878 variant was carried out using the TaqMan Real-Time Polymerase Chain Reaction (PCR) assay.</p> Results <p>The <i>BAX</i> rs4645878 variant analysis showed no statistically significant difference in the frequency of genotypes and alleles between all studied groups (<i>P</i> &gt; 0.05). There was a statistically significant difference in neck ultrasound TIRADS score between the PTC and non-malignant thyroid disease groups (<i>P</i> &lt; 0.001). However, we found a non-significant association between TIRADS score and <i>BAX</i> rs4645878 variant (<i>P</i> &gt; 0.05). The study revealed a significant association between genotypes of the <i>BAX</i> rs4645878 variant and PTC risk in female patients (<i>P</i> = 0.044), but not in males (<i>P</i> &gt; 0.05). Compared with the combined genotypes (A/G + A/A), the G/G genotype was associated with an elevated risk of PTC among females (OR = 6.2, 95% CI = 1.2–31.3). Similarly, the G allele was associated with 6.9 times more risk of having PTC in females compared with the A allele (OR = 6.9, 95% CI = 1.5–32.3, <i>P</i> = 0.022).</p> Conclusion <p>The G/G genotype and G allele of the <i>BAX</i> rs4645878 variant can serve as genetic risk markers for PTC susceptibility among females.</p>

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Association between BAX promoter variant and papillary thyroid carcinoma in a group of Egyptian patients

  • 期刊论文

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  • 发表日期：

    2025年8月1日

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  • Aisha O. Tolba,
  • Amaal A. Abdelaal,
  • Noha Osama Mohamed Ragaey,
  • Ahmad Mohamed Eltelety,
  • Amal Bahgat Fakhry

摘要

Background

Pro-apoptotic BAX protein plays a crucial role in mitochondrial-dependent apoptosis regulation. Single nucleotide variants (SNVs) in the BAX gene may serve as genetic risk markers for predicting the occurrence of cancer susceptibility and defining high-risk individuals. The aim of this study was to investigate the association of the BAX rs4645878 variant with papillary thyroid carcinoma (PTC) risk in a group of Egyptian patients.

Methods

The study was conducted on 50 PTC patients, 50 patients with non-malignant thyroid disease and 50 healthy individuals as controls. The genotyping of the BAX rs4645878 variant was carried out using the TaqMan Real-Time Polymerase Chain Reaction (PCR) assay.

Results

The BAX rs4645878 variant analysis showed no statistically significant difference in the frequency of genotypes and alleles between all studied groups (P > 0.05). There was a statistically significant difference in neck ultrasound TIRADS score between the PTC and non-malignant thyroid disease groups (P < 0.001). However, we found a non-significant association between TIRADS score and BAX rs4645878 variant (P > 0.05). The study revealed a significant association between genotypes of the BAX rs4645878 variant and PTC risk in female patients (P = 0.044), but not in males (P > 0.05). Compared with the combined genotypes (A/G + A/A), the G/G genotype was associated with an elevated risk of PTC among females (OR = 6.2, 95% CI = 1.2–31.3). Similarly, the G allele was associated with 6.9 times more risk of having PTC in females compared with the A allele (OR = 6.9, 95% CI = 1.5–32.3, P = 0.022).

Conclusion

The G/G genotype and G allele of the BAX rs4645878 variant can serve as genetic risk markers for PTC susceptibility among females.