Departamento de Microbiología y Patología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, México.
Servicio de Otorrinolaringología, Cabeza y uello, Centro Médico Nacional de Occidente, IMSS, Guadalajara, México.
J Clin Lab Anal. 2021 Apr;35(4):e23712. doi: 10.1002/jcla.23712. Epub 2021 Jan 28.
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.
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.
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.
The G allele in rs1135216 was associated with a genetic risk of susceptibility for RRP in a population in Western Mexico.
复发性呼吸道乳头瘤病（RRP）是一种影响儿童和成人的呼吸道疾病，其特征是多种乳头瘤的反复增殖。病原体是人乳头瘤病毒，主要为基因型 6 和 11。此外，TAP1 的多态性似乎影响抗原肽的选择和到粗糙内质网的转运过程，以便随后呈递给 T 淋巴细胞，这是对抗病毒疾病和肿瘤过程的一个重要过程。先前的研究表明，具有这些多态性的个体易患免疫、感染和肿瘤相关疾病。本研究旨在确定 TAP1 rs1057141（c.1177A>G）和 rs1135216（c.2090A>G）单核苷酸多态性（SNPs）与 RRP 之间的关联。
对一组 70 名个体（35 名对照和 35 名患者）进行病例对照研究。通过组织学和 PCR 确定 RRP 诊断、HPV 基因分型和病毒载量。通过实时 PCR 进行等位基因鉴别，确定 rs1057141 和 rs1135216 的 SNP。使用 Arlequin 3.5 程序进行单倍型分析。
在样本中发现了 HPV-6 和 HPV-11 基因型。在多态性分析中，rs1057141 无显著性差异（p=0.049，CI=0.994-7.331）。相反，在 rs1135216 的等位基因分析中发现了显著差异（p=0.039，OR=2.4），以及在显性分析中（p=0.027，OR=3.06）、共显性分析（p=0.033，OR=3.06）和加性模型（p=0.043，OR=2.505）中，G 等位基因与 RRP 的遗传易感性相关。
在墨西哥西部人群中，rs1135216 中的 G 等位基因与 RRP 的遗传易感性相关。
