【摘要】 目的探讨程序性死亡分子1(PD-1)基因的rs11568821、rs2227981和rs10204525位点在新疆维吾尔族结核病患者及健康对照人群中的基因型、等位基因及单体型的分布频率;确定PD-1单核苷酸多态性(SNP)与新疆维吾尔族结核病发病风险的相关性。方法利用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术对152例无血缘关系的新疆维吾尔族结核病患者和171例健康维吾尔族对照者的PD-1基因多态性的分布进行了检测。应用SPSS软件计算PD-1基因型和等位基因频率、χ~2值、优势比(OR)和95%可信区间(95%CI);SHEsis软件进行单体型的检测。结果新疆维吾尔族结核病患者与健康对照者PD-1三个位点基因型分布均符合Hardy-Weinberg平衡。虽基因型及等位基因在两组间差异均无统计学意义(P>0.05),但单体型组合C-A-G、C-A-A、T-G-G和C-A与结核病发病风险增加具有显著相关性,而T-A-A和T-A与降低结核病的发病风险有显著相关性。结论 PD-1单体型组合C-A-G、C-A-A、T-G-G和C-A可能增加结核病的发病风险,而T-A-A和T-A降低结核病的发病风险。更多还原

【Abstract】 Objective To investigate the distribution frequencies of rs11568821,rs2227981 and rs10204525 of PD-1 gene in Xinjiang Uygur tuberculosis patients and healthy controls,and to determine the distribution frequency of genotype,allele and haplotype,and the correlation of PD-1 single nucleotide polymorphisms(SNPs)with the risk of tuberculosis in Xinjiang Uygur nationality. Methods Using polymerase chain reaction(PCR)and restriction fragment length polymorphism(RFLP)technique,PD-1 gene polymorphisms were analysized among 152 unrelated Xinjiang Uyghur TB patients and 171 Uyghur healthy controls. The frequencies of PD-1 genotypes and alleles,chi-square values,odds ratio(OR)and 95%confidence intervals(95% CI)were determined by SPSS and haplotypes by SHEsis software. Results Distribution of 3 loci genotypes conformed to Hardy Weinberg equilibrium in the two groups. The genotypes and alleles frequencies had no significant differences between the two groups(P>0.05),but the haplotypes C-A-G,C-A-A,T-G-G and C-A were significantly associated with TB risk,and T-A-A and T-A haplotypes were negatively correlated with TB risk. Conclusion This study showed that C-A-G,C-A-A,T-G-G and C-A haplotypes of PD-1 could be correlated with TB risk in Xinjiang Uygur tuberculosis patients.更多还原