Laboratory of Genetic and Epigenetic of Human Diseases, Department of Experimental Therapy, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, 53-114 Wroclaw, Poland.
Department of Minimally Invasive and Robotic Urology, University Center of Excellence in Urology, Wroclaw Medical University, 50-556 Wroclaw, Poland.
Int J Mol Sci. 2024 Jun 22;25(13):6860. doi: 10.3390/ijms25136860.
Renal cell carcinoma (RCC) accounts for approximately 90-95% of all kidney cancers in adults, with clear cell RCC (ccRCC) being the most frequently identified subtype. RCC is known for its responsiveness to immunotherapy, making it an area of significant research interest. Immune checkpoint (IC) molecules, which regulate immune surveillance, are established therapeutic targets in RCC. The aim of this study was to analyze the influence of and gene polymorphisms on ccRCC susceptibility and patient overall survival (OS) over a ten-year period of observation. We genotyped three single nucleotide polymorphisms (SNPs): rs1886730, rs2234167, and rs8725, as well as two SNPs: rs744877 and rs2231375, in 238 ccRCC patients and 521 controls. Our findings indicated that heterozygosity within rs2231375 and/or rs2234167 increases ccRCC risk. Furthermore, in women, heterozygosity within SNPs rs8725 and rs1886730 is also associated with an increased ccRCC risk. The presence of a minor allele for rs1886730, rs2234167, rs8725, and rs2231375 was also correlated with certain clinical features of ccRCC. Moreover, rs1886730 was found to be associated with OS. In conclusion, our study highlights an association between and CD160 polymorphisms and the risk of developing ccRCC as well as OS.
肾细胞癌（RCC）约占成人所有肾癌的 90-95%，其中透明细胞 RCC（ccRCC）是最常见的亚型。RCC 对免疫治疗有反应，这使其成为一个重要的研究领域。免疫检查点（IC）分子调节免疫监视，是 RCC 的既定治疗靶点。本研究旨在分析 和 基因多态性对 ccRCC 易感性和患者十年观察期总生存期（OS）的影响。我们对 238 例 ccRCC 患者和 521 例对照者的三个 单核苷酸多态性（SNP）：rs1886730、rs2234167 和 rs8725，以及两个 SNP：rs744877 和 rs2231375 进行了基因分型。我们的研究结果表明，rs2231375 和/或 rs2234167 的杂合性增加了 ccRCC 的风险。此外，在女性中， SNPs rs8725 和 rs1886730 的杂合性也与 ccRCC 风险增加相关。rs1886730、rs2234167、rs8725 和 rs2231375 中的次要等位基因的存在也与 ccRCC 的某些临床特征相关。此外，rs1886730 与 OS 相关。总之，本研究强调了 和 CD160 多态性与 ccRCC 发病风险和 OS 的关系。
