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目的探讨Mμ阿片受体基因(OPRM1)基因A118G多态性对散发原发性帕金森病(parkinson’s disease,PD)发病的潜在影响。方法利用Pyrosequencing技术对114例PD患者和133例健康对照进行OPRM1A118G突变位点(rs1799971)分析。结果114例PD患者中62例为OPRM1118A野生型(A/A,54.4%),43例为杂合型突变(A/G,37.7%),9例为纯合型突变(G/G,7.9%)。133例对照中OPRM1118A野生型为90例(67.7%),A118G杂合型为39例(29.3%),118G纯合型为4例(3.0%),两组差异无统计学意义(χ2=5.849,P=0.054)。比较PD患者与对照人群OPRM1118位点野生型(A/A)和突变型(A/G+G/G)的阳性率,二者差异有统计学意义(χ2=4.576,P=0.032);等位基因A和G频率病例组分别为0.732和0.268,对照组分别为0.823和0.177,二者差异有统计学意义(χ2=5.932,P=0.015,OR=1.702,95%CI:1.107~2.617),提示OPRM1118G等位基因的携带与PD的发生呈正相关,该突变可能会增加PD的发病风险。结论OPRM1基因A118G多态性可能是散发原发性PD发病的一个潜在的易感位点。
Objective To investigate the potential effect of A118G polymorphism of Mμ opioid receptor gene (OPRM1) gene on the pathogenesis of parkinson’s disease (PD). Methods Pyrosequencing was used to analyze the OPRM1A118G mutation (rs1799971) in 114 PD patients and 133 healthy controls. Results Of the 114 PD patients, 62 were OPRM1118A wild type (A / A, 54.4%), 43 were heterozygous (A / G, 37.7%) and 9 were homozygous (G / G, 7.9 %). There were 90 cases (67.7%) of OPRM1118A wild type, 39 cases (29.3%) of A118G heterozygous and 4 cases (3.0%) of 118G homozygous with no significant difference between the two groups (χ2 = 5.849 , P = 0.054). The positive rates of wild type (A / A) and mutant (A / G + G / G) at OPRM1118 locus in PD patients and control subjects were statistically significant (χ2 = 4.576, P = 0.032) The frequency of allele A and G was 0.732 and 0.268 respectively in the control group and 0.823 and 0.177 respectively in the control group (χ2 = 5.932, P = 0.015, OR = 1.702, 95% CI: 1.107-2.617) , Suggesting that OPRM1118G allele carrier and the occurrence of PD was positively correlated, the mutation may increase the risk of PD. Conclusion The A118G polymorphism of OPRM1 gene may be a potential site of susceptibility to the pathogenesis of primary PD.