Rojas-Diaz Jose Manuel, Zambrano-Román Marianela, Padilla-Gutiérrez Jorge Ramón, Valle Yeminia, Muñoz-Valle José Francisco, Valdés-Alvarado Emmanuel
Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico.
Instituto de Investigación en Enfermedades Crónico Degenerativas, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico.
Curr Issues Mol Biol. 2024 Aug 1;46(8):8368-8375. doi: 10.3390/cimb46080493.
The incidence of basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) is constantly increasing, becoming a significant health problem. CTLA-4 is a critical immune checkpoint, and it has been suggested that a variant of variable-number tandem repeat in the 3'-UTR of its gene, known as (AT)n, may be associated with a higher susceptibility to some cancers; however, little is known about genetic variants of the gene in NMSC. To establish the association of this genetic variant in the gene with the susceptibility of NMSC carcinogenesis in the Western Mexican population, samples from 150 BCC patients, 150 SCC patients, and 150 healthy individuals as the reference group (RG) were analyzed by endpoint PCR, followed by electrophoresis to genotype the samples. We found that the short-repeat 104/104 bp genotype may be a risk factor for BBC carcinogens (OR = 2.92, = 0.03), whereas the long-repeat 106/106 bp genotype may be a protective factor for both BCC (OR = 0.13, = 0.01) and SCC (OR = 0.32, = 0.01) susceptibility. Our results show that in the Western Mexican population, long-repeat (AT)n variants in the gene are associated with a protective factor in BCC and SCC. In contrast, short repeats are associated with a risk factor.
基底细胞癌（BCC）和鳞状细胞癌（SCC）的发病率持续上升，成为一个重大的健康问题。细胞毒性T淋巴细胞相关抗原4（CTLA-4）是一个关键的免疫检查点，有人提出其基因3'-非翻译区中一种可变数目串联重复序列的变体，即（AT）n，可能与某些癌症的易感性较高有关；然而，对于非黑素瘤皮肤癌（NMSC）中该基因的遗传变异知之甚少。为了确定该基因中的这种遗传变异与墨西哥西部人群中NMSC致癌易感性之间的关联，我们通过终点聚合酶链反应（PCR）对150例BCC患者、150例SCC患者的样本以及150名健康个体作为参照组（RG）进行了分析，随后通过电泳对样本进行基因分型。我们发现短重复序列104/104 bp基因型可能是BCC致癌物的一个危险因素（比值比[OR]=2.92，P=0.03），而长重复序列106/106 bp基因型可能是BCC（OR=0.13，P=0.01）和SCC（OR=0.32，P=0.01）易感性的一个保护因素。我们的结果表明，在墨西哥西部人群中，该基因中的长重复（AT）n变体与BCC和SCC中的一个保护因素相关。相反，短重复序列与一个危险因素相关。
