Prognostic relevance of genetic variants involved in immune checkpoints in patients with colorectal cancer
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
Authors: Yoon, Shinkyo; Kang, Byung Woog; Park, Su Yeon; Kim, Hye Jin; Park, Jun Seok; Choi, Gyu Seog; Kim, Jong Gwang
Abstract
Genetic polymorphisms in genes involved in the immune response are already known to affect the anti-tumor immune response. This study systematically investigated the association of 14 functional SNPs in a panel of 7 genes (CCL2, CCR2, NT5E, IDO1, LAG3, PDL1, and PDCD1) involved in immune response checkpoints with the survival outcomes of Korean patients with colorectal cancer (CRC). The genomic DNA from 668 patients with curatively resected CRC was analyzed using a Sequenom MassARRAY, along with the association with recurrence-free survival (RFS) and overall survival (OS). Among the 14 SNPs, CCL2 rs4586 and PDCD1 rs10204525 were found to have an influence on the survival outcomes of the patients with resectable CRC. CCL2 rs4586 showed a significant correlation with OS in a recessive model in a univariate analysis, as well as a multivariate analysis. In addition, PDCD1 rs10204525 revealed a significant association with RFS and OS in a recessive model in a univariate analysis and exhibited a significant impact in a multivariate analysis. In conclusion, this results suggest that the genetic predisposition of the host may affect the anti-tumor immune reaction in CRC. The results of this study may also be helpful when selecting targets for novel drug development to promote the anti-tumor immune response.
Association between polymorphisms in PDCD1 gene and aplastic anemia in Chinese Han population
LEUKEMIA & LYMPHOMA
Authors: Wu, Zixia; Miao, Miao; Qiu, Yuhua; Qin, Zhenghong; Wang, Jin; Jiang, Yiguo; Ming, Zhijun; Zhang, Xueguang
Abstract
Single nucleotide polymorphism (SNP) of programmed cell death 1 (PD-1, encoded by PDCD1) has been reported to be associated with several autoimmune diseases including rheumatoid arthritis (RA), Graves' disease and multiple sclerosis (MS). In order to study the correlation between PD-1 gene polymorphism and aplastic anemia in a Chinese Han population, two SNPs, PD-1.1 G/A (rs36084323) and PD-1.6 G/A (rs10204525), were genotyped in 166 patients with aplastic anemia and 144 healthy controls by direct sequencing. All genotype distributions in both patients and controls were in Hardy-Weinberg equilibrium. Associations of genotypes and alleles with aplastic anemia were analyzed. The results suggested that the G allele of PD-1.1 was associated with an increased risk for aplastic anemia, while SNP of PD-1.6 was not associated with aplastic anemia in a Chinese Han population.