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目的:基于目前多种基因的单核苷酸多态性(SNPs)在小细胞肺癌(SCLC)中的研究进展,进一步探讨基因的SNPs对SCLC易感性、化疗疗效及预后的影响。方法:应用PubMed和万方期刊全文检索系统,以“小细胞肺癌、单核苷酸多态性”等为关键词,检索2006-2011年发表的相关文献,共检索到258文献条。纳入标准:1)SNPs与SCLC易感性;2)SNPs与SCLC化疗疗效;3)SNPs与SCLC预后。根据纳入标准,共纳入分析文献39篇。结果:单核苷酸多态性是第3代分子遗传标志,SNPs决定基因的功能单位和人群遗传变异的内在特征,它反映了个体表型、疾病易感性和对药物、环境因子反应的差异。近年来国内外许多学者研究表明,许多基因位点的SNPs与SCLC的易感性、化疗疗效及预后相关,这些SNPs主要发生于DNA修复基因、致癌物质代谢基因、癌基因、抑癌基因、凋亡相关基因和药物代谢相关基因等。随着第2代高通量测序方法的应用,不仅能对高频和低频乃至稀有变异进行检测,还能发现新的突变位点,将在一定程度上推动SNPs的研究。结论:SNPs在SCLC的易感性、化疗疗效及预后的研究中发挥着潜在的重要的作用。
OBJECTIVE: To investigate the current progress of single nucleotide polymorphisms (SNPs) of multiple genes in small cell lung cancer (SCLC) and further investigate the influence of SNPs in gene on the susceptibility to SCLC, the efficacy and prognosis of chemotherapy. Methods: PubMed and Wanfang journal full-text search system were used to search for 258 articles published in 2006-2011 with the keywords of “small cell lung cancer and single nucleotide polymorphism” as the key words. Inclusion criteria: 1) susceptibility to SNPs and SCLC; 2) efficacy of SNPs and SCLC chemotherapy; and 3) prognosis of SNPs and SCLC. According to the inclusion criteria, a total of 39 articles were included in the analysis. Results: Single nucleotide polymorphism (SNP) is the third generation of molecular genetic markers. SNPs determine the functional units of gene and the inherent characteristics of population genetic variation. It reflects the individual phenotype, disease susceptibility and differences in response to drugs and environmental factors . In recent years, many scholars at home and abroad have shown that SNPs of many loci are related to the susceptibility to SCLC, the curative effect and prognosis of chemotherapy. These SNPs mainly occur in DNA repair genes, oncogene metabolism genes, oncogenes, tumor suppressor genes, apoptosis Related genes and drug metabolism related genes. With the application of the second generation high-throughput sequencing method, not only high and low frequency and even rare mutations can be detected, but also new mutation sites can be found, which will promote the research of SNPs to a certain extent. Conclusion: SNPs play a potentially important role in the study of SCLC susceptibility, chemotherapy efficacy and prognosis.