【摘要】 目的探讨Nod样受体家族蛋白3 (Nod-like receptor protein 3,NLRP3)rs4612666及rs7525979位点多态性与中国北方东部汉族人群帕金森病(Parkinson disease,PD)发病风险的相关性。方法采用病例对照研究,共招募400例PD患者(PD组)及400例健康对照者(对照组),应用聚合酶链反应-限制性片段长度多态性方法鉴定NLRP3基因SNPs位点rs4612666和rs7525979。结果 PD组rs4612666等位基因与对照组具有统计学差异,C等位基因频率低于对照组,降低发病风险(OR=0.794,95%CI:0.653～0.967,P=0.021),隐性遗传模型CC/TT+CT分布在PD组与对照组之间差异具有统计学意义(OR=0.667,95%CI:0.481～0.925,P=0.015)。亚组分析中,与对照组比较,女性PD组与早发型PD组等位基因分布差异具有统计学意义(P=0.003,P=0.018)。rs7525979位点的基因型分布和等位基因频率在PD组与对照组比较均无统计学差异(P>0.05)。结论在中国北方东部汉族人群中,NLRP3 rs4612666的C等位基因是PD的保护性因素。更多还原

【Abstract】 Objective To investigate the association between Nod-like receptor protein 3(NLRP3) gene polymorphisms and Parkinson disease(PD)susceptibility in the Eastern North Chinese Han population. Methods A case-control study was performed in 400 patients with PD and 400 healthy age and sex-matched individuals, Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) was used to detect two NLRP3 polymorphisms(rs4612666, and rs7525979). Results The rs4612666 allelic frequency in PD group was significantly different compared with the control group. The frequency of C allele was lower in the PD group than in the control group(OR=0.794,95% CI:0.653 ～0.967,P =0.021). Significant association for rs4612666 could be observed in recessive model(CC vs. TT + CT, OR =0.667, 95% CI: 0.481 ～0.925, P =0.015). In subgroup analysis, a significant difference was found in allele frequency of rs4612666 between female PD group and its healthy-matched control(P=0.003), as well as between EOPD group and its healthy-matched control(P=0.018, respectively). For rs7525979 polymorphisms, no significant relationship was found in genotype or allele frequencies between any groups. Conclusion The C allele of NLRP3 rs4612666 polymorphism may be a protective factor against sporadic PD in the Eastern North Chinese Han population.更多还原