【摘要】 目的研究PDGFB基因rs1800817和rs1800818多态性与鼻咽癌(NPC)易感性的关系。方法采用多重PCR及高通量测序方法,检测120例NPC患者与126例健康对照者的rs1800817和rs1800818基因型,分析两组基因型和等位基因与NPC易感性的关系。并将126例健康人群与来自ensembl数据库的其他地区健康人群进行基因型和等位基因分布频率比较。结果 rs1800817和rs1800818位点基因型和等位基因在两组中差异均无统计学意义(P>0.05);男性rs1800817和rs1800818位点TT基因型在两组中差异有统计学意义(P <0.05),而不同性别两位点的其他基因型在两组中差异无统计学意义(P>0.05);广西人群rs1800817和rs1800818位点基因型和等位基因频率与欧洲、日本、非洲、美国及南亚人群之间差异均有统计学意义(P <0.05),但与北京汉族人群比较,差异无统计学意义(P>0.05);此外,rs1800817和rs1800818位点多态性和NPC患者组织类型、临床分期、淋巴转移和远处转移比较,差异均无统计学意义(P>0.05)。结论 PDGFB基因rs1800817和rs1800818多态性在不同地域人群分布存在差异,并且其TT基因型可增加桂西地区男性NPC的发病风险。更多还原

【Abstract】 Objective To investigate the relationship between polymorphisms at rs1800817 and rs1800818 loci of the PDGFB gene and susceptibility to nasopharyngeal carcinoma(NPC). Methods Multiple PCR and high-throughput sequencing were used to detect the genotypes of rs1800817 and rs1800818 in 120 NPC patients and 126 healthy controls.We analyzed the relationship of the genotypes and alleles of two groups with NPC susceptibility.The genotype and allele distribution frequency of the 126 healthy controls were compared with those of other healthy populations from the ensembl database. Results There were no significant differences in genotypes and alleles of loci rs1800817 and rs1800818 between two groups(P >0.05).The TT genotypes of loci rs1800817 and rs1800818 in males showed statistically significant difference between two groups(P <0.05),while the other genotypes of loci rs1800817 and rs1800818 of each gender showed no statistically significant difference between two groups(P >0.05).The genotypes and allele frequencies of rs1800817 and rs1800818 loci in Guangxi population were significantly different from those in Europe,Japan,Africa,the United States and South Asia populations(P <0.05),but there was no significant difference in this aspect between Guangxi population and Beijing Han population(P >0.05).In addition,the polymorphisms of rs1800817 and rs1800818 loci were not significantly different in terms of tissue types,clinical stages,lymphatic metastasis and distant metastasis in NPC patients(P >0.05). Conclusion The rs1800817 and rs1800818 polymorphisms of the PDGFBgene have different distribution in different regions,and its TT genotype can increase the risk of NPC in males in western Guangxi.更多还原