Valdez-Salazar Fernando, Jiménez-Del Rio Luis A, Guevara-Gutiérrez Elizabeth, Mendoza-Ochoa Andrea Melissa, Zorrilla-Marina María José, García-Nuño Diana Karla, Padilla-Gutiérrez Jorge R, Muñoz-Valle José F, Valdés-Alvarado Emmanuel
Instituto de Investigación en Ciencias Biomédicas (IICB), Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Departamento de Biología Molecular y Genómica, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Genes (Basel). 2025 Jul 24;16(8):866. doi: 10.3390/genes16080866.
: Melanoma is an aggressive skin cancer influenced by genetic and immunological factors. The gene encodes PD-1, a receptor involved in immune evasion and therapeutic response. This study aimed to evaluate the association of variants (rs2227982, rs36084323, rs7421861) and its relative gene expression with melanoma in a Mexican population. : An analytical cross-sectional study was conducted with 262 samples: 131 from melanoma patients (newly diagnosed and treatment-naïve) and 131 from cancer-free controls. Genotyping was performed using real-time PCR. expression was assessed by qPCR, normalized with , using the 2 method and the Pfaffl model. Statistical comparisons included allele/genotype frequencies, expression levels, and clinicopathological associations. : No significant association was found between the studied variants and melanoma susceptibility. However, was significantly overexpressed in melanoma samples (2.42-fold increase; < 0.01), consistent across both quantification methods. Significant associations were also observed between histopathological subtype and Breslow thickness, and between subtype and anatomical site ( < 0.01). : Although variants showed no association with melanoma risk, the gene's overexpression highlights its potential relevance in melanoma immunobiology. These findings contribute to the molecular characterization of melanoma in the Mexican population and support future research on as an immunological biomarker.
黑色素瘤是一种受遗传和免疫因素影响的侵袭性皮肤癌。该基因编码PD - 1，一种参与免疫逃逸和治疗反应的受体。本研究旨在评估墨西哥人群中该基因变体（rs2227982、rs36084323、rs7421861）及其相关基因表达与黑色素瘤的关联。：采用分析性横断面研究，共纳入262个样本：131个来自黑色素瘤患者（新诊断且未接受过治疗），131个来自无癌对照。使用实时PCR进行基因分型。通过qPCR评估基因表达，以……进行标准化，采用2−ΔΔCT方法和Pfaffl模型。统计比较包括等位基因/基因型频率、表达水平和临床病理关联。：在所研究的基因变体与黑色素瘤易感性之间未发现显著关联。然而，该基因在黑色素瘤样本中显著过表达（增加2.42倍；P < 0.01），两种定量方法结果一致。在组织病理学亚型与Breslow厚度之间以及亚型与解剖部位之间也观察到显著关联（P < 0.01）。：尽管基因变体与黑色素瘤风险无关联，但该基因的过表达凸显了其在黑色素瘤免疫生物学中的潜在相关性。这些发现有助于墨西哥人群黑色素瘤的分子特征描述，并支持未来将该基因作为免疫生物标志物的研究。
