云南汉族人群CCR5基因启动子多态性与HCV慢性感染的关系

摘要

Objective:To investigate the association of single nucleotide polymorphisms (SNPs) in CCR5 gene promoter with chronic HCV infection in Yunnan Han population.Methods:Among Chinese Han population in Yunnan Province, 363 patients with HCV chronic infection were recruited as a case group, and 354 healthy individuals as control group.The CCR5 promoter sequences were amplified by PCR.Sanger sequencing was used to detect six SNPs including rs2227010 (A＞G), rs2734648 (T＞G), rs1799987 (G＞A), rs1799988 (T＞C), rs1800023 (G＞A) and rs180024 (C＞T) ) in CCR5 promoter region.We compared these six SNPs with the GenBank (NC_000003.12) sequence to obtain SNP sites in the Han population of Yunnan Province.The obtained SNPs were genotyped and calculated for allele frequency and genotype frequency;the haplotype was constructed to analyze the genetic model and the distribution difference between the two groups.Results:Among nine SNPs sites in the CCR5 gene promoter, six SNPs including rs2227010 (A＞G), rs2734648 (T＞G), rs1799987 (G＞A), rs1799988 (T＞C), rs1800023 (G＞A), rs41355345 (C＞G) and 1800024 (C＞T) have polymorphisms in Yunnan Han population.However, there is not statistically significant difference in the frequencies of allele, genotype, haplotype and inheritance patterns of these six SNPs between HCV infection group and healthy control group (P＞0.05).Conclusion:These six SNP locus in CCR5 gene promoter region may not be associated with the susceptibility of HCV chronic infection in Han population of Yunnan provience.%目的:研究云南汉族人群CCR5基因启动子单核苷酸多态性位点 (SNPs) 与丙型肝炎病毒 (HCV) 慢性感染的关系.方法:选取356例云南汉族HCV慢性感染者作为病例组, 353例健康体检者作为对照组, 采用PCR法扩增受检者CCR5基因启动子区基因序列;然后采用Sanger法对扩增序列进行测序并与Gen Bank (NC_000003.12) 序列比较获得与云南省汉族人群具有多态性的SNPs位点, 对获得的SNPs位点进行基因分型, 计算这些SNPs位点的等位基因频率和基因型频率;构建单倍型并分析遗传模式进行, 比较两组间的分布差异.结果:在CCR5基因启动子区域有9个SNPs位点, 其中rs2227010 (A＞G) 、rs2734648 (T＞G) 、rs1799987 (G＞A) 、rs1799988 (T＞C) 、rs1800023 (G＞A) 及1800024 (C＞T) 6个位点在云南省汉族人群中具有多态性;这6个SNPs位点的基因型频率、等位基因频率及单倍型频率在病例组与对照组比较, 差异均无统计学意义 (P＞0.05) .结论:CCR5基因启动子中的rs2227010 (A＞G) 、rs2734648 (T＞G) 、rs1799987 (G＞A) 、rs1799988 (T＞C) 、rs1800023 (G＞A) 及1800024 (C＞T) SNPs位点与云南汉族人群HCV慢性感染无关.