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目的:研究RTN4多态性rs2864052和rs6545468位点及其单倍型与广西壮族人群鼻咽癌易感性相关关系。方法:运用单碱基延伸PCR技术和DNA测序法对广西壮族282例鼻咽癌患者(鼻咽癌组)和199例健康体检者(对照组)的RTN4基因rs2864052和rs6545468位点进行基因分型,并分析RTN4基因的单倍型频率。结果:RTN4基因rs2864052存在AA、GA、GG三种基因型和A、G等位基因,其在鼻咽癌组与对照组中的基因型、等位基因频率的分布差异无统计学意义;rs6545468位点存在CC、GC、GG三种基因型和C、G等位基因,其在鼻咽癌组与对照组中的基因型、等位基因频率的分布差异亦无统计学意义。但单倍型分析发现鼻咽癌组单倍型AG频率显著低于对照组(P=0.004,OR=0.14,95%CI为0.31-0.68)。结论:RTN4基因多态性rs2864052和rs6545468位点的单倍型AG可降低广西壮族人群个体鼻咽癌易感性。
Objective: To investigate the relationship between rs2864052 and rs6545468 loci and haplotypes of RTN4 polymorphism and susceptibility to nasopharyngeal carcinoma in Guangxi Zhuang nationality. Methods: The genotypes of rs2864052 and rs6545468 of RTN4 gene in 282 NPC patients (nasopharyngeal carcinoma) and 199 healthy controls (control group) in Guangxi Zhuang Autonomous Region were genotyped by single base extension PCR and DNA sequencing , And analyzed haplotype frequency of RTN4 gene. Results: There were three genotypes AA, GA, GG and A and G alleles in rs2864052 of RTN4 gene. There was no significant difference in the distribution of genotype and allele between NPC and control group. Rs6545468 There were three genotypes CC, GC and GG and C and G alleles in the locus. There was no significant difference in the distribution of genotype and allele frequencies in NPC and control groups. However, the frequency of haplotype AG in nasopharyngeal carcinoma was significantly lower than that of the control group (P = 0.004, OR = 0.14, 95% CI 0.31-0.68). Conclusion: The haplotype AG of rs2864052 and rs6545468 loci in RTN4 gene may reduce the individual susceptibility to NPC in Guangxi Zhuang nationality.