Córdoba-Lanús Elizabeth, García-Pérez Omar, Melgar-Vilaplana Leticia, Domínguez-de-Barros Angélica, Fernández-de-Misa Ricardo
Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias (IUETSPC), Universidad de La Laguna, Avda. Astrofísico Sánchez, s/n, 38296 San Cristóbal de La Laguna, Spain.
Consorcio Centro de Investigación Biomédica (CIBER) de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Biomolecules. 2025 Apr 15;15(4):584. doi: 10.3390/biom15040584.
: The incidence of malignant melanoma (MM) continues to increase annually, and tumour invasiveness is a main prognostic factor. Single-nucleotide polymorphisms (SNPs) have become key tools in the study of cancer genetics, influencing susceptibility and prognosis. : In the present study, we analysed the relationship between five SNPs on the gene (rs822336, rs822337, rs822338, rs229736, rs4143815) with prognosis as well as primary tumour invasiveness characteristics in 377 whole blood samples from MM individuals. : Patients who presented the rs822336 CG or GG genotypes (OR = 3.01, 95% CI = 1.53-5.92; = 0.0017), TA or TT in rs822337 (OR = 2.45, 95% CI = 1.22-4.93; = 0.0098), and CT or CC of rs822338 (OR = 2.23, 95% CI = 1.05-4.73; = 0.028) were at an increased risk of developing invasive melanomas. Cases with the AG or GG genotype in rs2297136 presented a lower risk (OR = 0.29, 95% CI = 0.11-0.75; = 0.0038) of invasive MM. The genetic analysis at the haplotype level resulted in similar findings (OR: 2.95, 95% CI: 1.08-8.10), = 0.036). Furthermore, patients carrying the homozygous AA genotype in rs2297136 had thicker tumours than those harbouring the AG or GG (1.4 mm vs. 1.0 and 0.8 mm; = 0.030). No significant association was found between the studied SNPs and melanoma-specific survival (MSS) nor progression-free survival (PFS). : Current results suggest that SNPs rs822336, rs822337, rs822338, and rs2297136 genotypes in the gene are associated with the risk of tumour invasiveness and tumour thickness in MM. Further studies on SNPs considering genetic and epigenetic factors are needed for a better understanding of malignant melanoma susceptibility and its prognosis.
恶性黑色素瘤（MM）的发病率每年持续上升，肿瘤侵袭性是一个主要的预后因素。单核苷酸多态性（SNP）已成为癌症遗传学研究的关键工具，影响易感性和预后。在本研究中，我们分析了377份MM患者全血样本中基因上五个SNP（rs822336、rs822337、rs822338、rs229736、rs4143815）与预后以及原发性肿瘤侵袭性特征之间的关系。呈现rs822336 CG或GG基因型（OR = 3.01，95% CI = 1.53 - 5.92；P = 0.0017）、rs822337的TA或TT基因型（OR = 2.45，95% CI = 1.22 - 4.93；P = 0.0098）以及rs822338的CT或CC基因型（OR = 2.23，95% CI = 1.05 - 4.73；P = 0.028）的患者发生侵袭性黑色素瘤的风险增加。rs2297136的AG或GG基因型病例发生侵袭性MM的风险较低（OR = 0.29，95% CI = 0.11 - 0.75；P = 0.0038）。单倍型水平的遗传分析得出了类似的结果（OR：2.95，95% CI：1.08 - 8.10），P = 0.036。此外，携带rs2297136纯合AA基因型的患者肿瘤比携带AG或GG基因型的患者更厚（1.4毫米对1.0毫米和0.8毫米；P = 0.030）。在所研究的SNP与黑色素瘤特异性生存（MSS）及无进展生存（PFS）之间未发现显著关联。当前结果表明，基因中的SNP rs822336、rs822337、rs822338和rs2297136基因型与MM的肿瘤侵袭风险和肿瘤厚度相关。为了更好地理解恶性黑色素瘤易感性及其预后，需要进一步研究考虑遗传和表观遗传因素的SNP。
