Department of Cell Biology, Embryology and Genetics (BEG), School of Biological Sciences (CCB), Universidade Federal de Santa Catarina (UFSC), Florianópolis, 88040-900, Brazil.
Polydoro Ernani de São, Thiago University Hospital (HU/UFSC), Florianópolis, 88036-800, Brazil.
Biochem Genet. 2021 Oct;59(5):1233-1246. doi: 10.1007/s10528-021-10060-z. Epub 2021 Mar 22.
Several genes have been associated with breast cancer (BC) susceptibility. The tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), and interferon lambda receptor 1 (IFNLR1) genes encode receptors that mediate the action of inflammatory cytokines. Previous studies have demonstrated the association of the variants rs1800693 (TNFRSF1A) and rs4649203 (IFNLR1) with some inflammatory diseases. The present study aimed to verify a possible association of these variants with BC, its clinical pathologic features, as well as epidemiological data in a Brazilian population. A total of 243 patients and 294 individuals without history of BC were genotyped for these polymorphisms through TaqMan® SNP genotyping assays by qPCR. For the TNFRSF1A gene, no significant results were found. For IFNLR1, the AA genotype (p = 0.008) and the A allele (p = 0.02) were significantly associated with a lower risk of developing BC. When analyzing the age, it was observed that each increase of one year contributes to the development of BC (p < 0.001). Also, the smoking habit (p < 0.001) and body mass index (p = 0.018) increase the risk of disease development. Analyzing progesterone receptor factor an association was found with the AA genotype of the IFNLR1 (p = 0.02). The findings suggest that polymorphism in the immune-related IFNLR1 gene contribute to BC susceptibility in a Brazilian population. These findings can contribute to the further understanding of the role this gene and pathways in BC development.
几种基因与乳腺癌(BC)易感性有关。肿瘤坏死因子受体超家族成员 1A(TNFRSF1A)和干扰素 lambda 受体 1(IFNLR1)基因编码介导炎症细胞因子作用的受体。先前的研究表明,TNFRSF1A 基因的 rs1800693 变体和 IFNLR1 基因的 rs4649203 变体与一些炎症性疾病有关。本研究旨在验证这些变体与 BC 及其临床病理特征以及巴西人群中流行病学数据的可能关联。通过 qPCR 通过 TaqMan®SNP 基因分型测定法对 243 名患者和 294 名无 BC 病史的个体进行了这些多态性的基因分型。对于 TNFRSF1A 基因,未发现显著结果。对于 IFNLR1,AA 基因型(p=0.008)和 A 等位基因(p=0.02)与较低的 BC 发病风险显著相关。在分析年龄时,观察到每年增加一岁都会导致 BC 的发展(p<0.001)。此外,吸烟习惯(p<0.001)和体重指数(p=0.018)增加了疾病发展的风险。分析孕激素受体因素发现,IFNLR1 的 AA 基因型与孕激素受体因素存在关联(p=0.02)。这些发现表明,免疫相关 IFNLR1 基因的多态性有助于巴西人群中 BC 的易感性。这些发现可以促进进一步了解该基因及其在 BC 发展中的作用和途径。