摘要
目的观察嘌呤受体P2X7基因489C>T多态性和依赖还原型辅酶I醌氧化还原酶(NQ01)基因609C>T多态性对散发原发性帕金森病(PD)发病的影响。方法利用Pyrosequenc- ing技术对52例散发原发性PD患者和133例正常健康对照进行P2X7基因489C>T和NQ01基因609C>T突变位点分析。结果PD病例组P2X7 489位点突变型(C/T+T/T)阳性率(88.5%)明显高于对照组(73.7%),差异有统计学意义(x^2=4.73,P<0.05),其患PD的相对危险度(OR)为2.74(95%CI 1.01～7.83)。P2X7 489位点T等位基因频率PD病例组(59.6%)高于对照组(48.1%,x^2=3.95,P<0.05;OR=1.59,95%CI=0.98～2.59)。NQO1 609位点含T碱基的NQO1基因型在PD病例组占61.6%,对照组占49.6%(OR=1.62,95%CI=0.80～3.29)。T等位基因频率PD病例组(33.6%)高于对照组(28.9%,OR=1.25,95%CI=0.74～2.08),但两者差异均无统计学意义。结论P2X7基因489位点C/T和T/T基因型、T等位基因以及NQO1基因609位点T等位基因可能是散发原发性PD发病的危险性因素。
Objective To study whether sporadic primary Parkinson＇s disease （PD） is associated with genetic polymorphisms of P2X7 489C 〉 T and NQO1 609C 〉 T. Methods The gene polymorphisms of P2X7 and NQO1 in 52 cases of sporadic PD and 133 normal healthy controls were analyzed by using pyrosequencing technique. Results Frequency of P2X7 489 mutation （ C/T ＋ T/T, 88.5% ） in PD cases was significantly higher than that in controls （73.7% ,X2 = 4.73, P 〈 0.05 ）. Allele frequencies of T at P2X7 489 site were 59.6% in PD cases and 48.1% in controls, respectively （X^2 = 3.95, P 〈 0.05）. C/T ＋ T/T genotypes of P2X7 489C 〉 T had 2.74 of odds ratio （OR） for PD incidence （95% CI 1.01-7.83 ）. Allele frequencies of T at NQO1 609 site were 33.6% in PD cases and 28.9% in controls, respectively. Frequencies （ C/T ＋ T/T） of NQO1 609C 〉 T were 61.5% in PD cases and 59, 6% in controis, respectively, which had 1.62 of odds ratio （OR） for incidence of PD （95 % CI 0.80-3.29 ）. Con- elusion P2X7 489C 〉 T in C/T and T/T genotypes, T alleles of P2X7 489C 〉 T and NQO1 609C 〉 T might be risk factors of sporadic primary PD pathogenesis.
出处
《中华实验外科杂志》
CAS
CSCD
北大核心
2007年第11期1310-1312,共3页
Chinese Journal of Experimental Surgery
关键词
单核苷酸多态性
帕金森病
基因
Single nucleotide polymorphism
Primary Parkinson＇ s disease
Gene
