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Association between the TAP1 gene polymorphisms and recurrent respiratory papillomatosis in patients from Western
Jaime Palomares-Marin1, Luis Humberto Govea-Camacho2, Vania Araujo-Caballero2
1Departamento de Microbiología y Patología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, México.
Background:
Recurrent respiratory papillomatosis (RRP) is a respiratory tract disease that affects children and adults and is characterized by the recurrent proliferation of multiple papillomas. The etiologic agent is the human papillomavirus, mainly genotypes 6 and 11. Furthermore, polymorphisms in TAP1 appear to influence the selection of antigenic peptides and the transport process to the rough endoplasmic reticulum, for their subsequent presentation to T lymphocytes, an essential process against viral diseases and tumor processes. Previous studies have shown that individuals with those polymorphisms are susceptible to immune, infectious, and tumor-related diseases. The present study aimed to determine the association between the TAP1 rs1057141 (c.1177A>G) and rs1135216 (c.2090A>G) single nucleotide polymorphisms (SNPs) and RRP.
Methods:
A case-control study was carried out on a group of 70 individuals (35 controls and 35 patients). RRP diagnosis, HPV genotyping, and viral load were determined through histology and PCR. SNPs rs1057141 and rs1135216 were identified through allelic discrimination, using real-time PCR. The haplotypic analyses were performed using the Arlequin 3.5 program.
Results:
HPV-6 and HPV-11 were the genotypes found in the samples. In the polymorphism analysis, rs1057141 showed no significant differences (p = 0.049, CI = 0.994-7.331). In contrast, a significant difference was found in rs1135216 (p = 0.039, OR = 2.4) in the allelic analysis, as well as in the dominant (p = 0.027, OR = 3.06), codominant (p = 0.033, OR = 3.06), and additive model (p = 0.043, OR = 2.505) in subjects with the G allele.
Conclusion:
The G allele in rs1135216 was associated with a genetic risk of susceptibility for RRP in a population in Western Mexico.
Insights
The G allele in the TAP1 rs1135216 gene polymorphism is linked to an increased genetic risk of developing recurrent respiratory papillomatosis (RRP). This finding is significant for understanding RRP susceptibility in certain populations.
Area of Science:
- Immunogenetics
- Virology
- Respiratory Medicine
Background:
- Recurrent respiratory papillomatosis (RRP) is a disease caused by human papillomavirus (HPV), primarily genotypes 6 and 11.
- TAP1 gene polymorphisms may affect immune responses to viral infections and tumors.
- Previous research suggests TAP1 polymorphisms are associated with susceptibility to immune, infectious, and tumor-related diseases.
Purpose of the Study:
- To investigate the association between TAP1 single nucleotide polymorphisms (SNPs), specifically rs1057141 and rs1135216, and the risk of RRP.
- To determine if specific genetic variations in TAP1 influence susceptibility to RRP in a Western Mexican population.
Main Methods:
- A case-control study involving 35 RRP patients and 35 healthy controls.
- Histology and PCR were used for RRP diagnosis, HPV genotyping, and viral load determination.
- Real-time PCR and Arlequin 3.5 software were employed for SNP and haplotypic analyses of rs1057141 and rs1135216.
Main Results:
- HPV-6 and HPV-11 were identified as the causative genotypes in the studied RRP cases.
- No significant association was found for the TAP1 rs1057141 polymorphism (p=0.049).
- A significant association was observed for the TAP1 rs1135216 polymorphism, particularly the G allele, across allelic, dominant, codominant, and additive models (p<0.05).
Conclusions:
- The G allele of the TAP1 rs1135216 polymorphism is associated with an increased genetic risk of susceptibility to RRP.
- This finding highlights the role of specific TAP1 gene variations in RRP development within the studied population.
- Further research may elucidate the precise mechanisms linking TAP1 rs1135216 to RRP pathogenesis.
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