摘要
目的探讨CTLA-4基因rs5742909、rs231775位点单核苷酸多态性与中国汉族人群肾癌易感性的关系。方法收集96例肾癌患者和96名健康对照人群的基线资料,采集研究对象5 ml外周血用于提取全血DNA,应用imLDR技术对rs5742909、rs231775位点进行基因分型,观察其基因型在病例组和对照组之间的分布差异,使用条件Logistic回归分析各基因型与肾癌发病风险的关系;根据连锁不平衡结果构建单倍型,分析各单倍型在病例组和对照组中分布频率。结果对照组中rs5742909、rs231775位点的基因型频率均符合Hardy-Weinberg平衡(P>0.05)。CTLA-4 rs5742909、rs231775位点基因型和等位基因频率在两组的分布差异均有统计学意义(P<0.05),但与患肾癌的风险关系均未达到统计学意义(P>0.05);rs5742909位点C等位基因可能与肾癌患病风险降低有关[P=0.006,OR(95%CI)为0.443(0.237~0.792)],rs231775位点A等位基因可能与肾癌患病风险增加有关[P=0.009,OR(95%CI)为1.781(1.154~2.749)]。单倍型rs5742909C-rs231775G可能是肾癌患病的保护因素[OR(95%CI)为0.556(0.360~0.858)],而rs5742909T-rs231775A或为肾癌患病的危险因素[OR(95%CI)为2.230(1.216~4.089)]。结论CTLA-4基因rs5742909、rs231775位点多态性与中国人群肾癌患病风险可能无关。
Objective To investigate the relationship between single nucleotide polymorphisms of CTLA-4 gene rs5742909 and rs231775 and the susceptibility of renal cell carcinoma in Chinese Han population.Methods The baseline data of 96 patients with renal cell carcinoma and 96 healthy controls were collected.5ml peripheral blood was collected to extract whole blood DNA.The genotypes of rs5742909 and rs231775 were genotyped by imLDR technology.The distribution difference of genotypes between the case group and the control group was observed.The relationship between each genotype and the risk of renal cancer was analyzed by conditional logistic regression.The haplotypes were constructed and the distribution frequency of each haplotype in the case group and the control group was analyzed.Results The genotype frequencies of rs5742909 and rs231775 in the control group were in accordance with Hardy Weinberg equilibrium(P>0.05).The distribution of CTLA-4 rs5742909,rs231775 genotypes and allele frequencies in the 2 groups were statistically significant(P<0.05),but the relationship between CTLA-4 rs5742909 and rs231775 loci was not statistically significant(P>0.05);rs5742909 C allele might be associated with the reduced risk of renal cancer[P=0.006,or(95%)0.443(0.237~0.792)],rs231775 A allele may be associated with increased risk of renal cell carcinoma[P=0.009,or(95%CI)1.781(1.154~2.749)].Haplotype rs5742909c-rs231775g may be a protective factor[or(95%CI)0.556(0.360~0.858)],while rs5742909t-rs231775a may be a risk factor for RCC[or(95%CI)is 2.230(1.216~4.089)].Conclusion The rs5742909 and rs231775 polymorphisms of CTLA-4 gene may not be associated with the risk of renal cancer in Chinese population.
作者
刘琦
赵灵燕
程佳颖
周旭颖
隋静
高玉敏
LIU Qi;ZHAO Lingyan;CHENG Jiaying(Inner Mongolia Medical University,Hohhot,010110)
出处
《实用癌症杂志》
2021年第3期497-500,共4页
The Practical Journal of Cancer
