摘要
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OPRM1 A118G突变位点（rs1799971）分析。结果114例PD患者中62例为OPRM1 118A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OPRM1 118A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（Х^2=5．849，P=0．054）。比较PD患者与对照人群OPRM1 118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（Х^2=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（Х^2=5．932，P=0．015，OR=1．702，95％CI：1．107～2．617），提示OPRM1 118G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 ascertain the relevance of mu opioid receptor gene polymorphism A118G （rs1799971） to susceptibility to sporadic primary Parkinson＇s disease （PD） in Chinese. Methods The sequence at this locus in 114 cases of sporadic PD patients and 133 normal healthy controls was determined by pyrosequencing. Results Sixty-two of 114 PD cases （54.4%） carried the wild-type allele of 118A （A/A）, 43 cases were heterozygous （A/G,37.7%） and 9 cases were homozygous for the variant G （G/G, 7.9 % ）. In controls, 90 of 133 individuals were wild type （A/A, 67.7 % ）, 39 individuals were heterozygous （A/G, 29.3 % ） and 4 individuals were homozygous for the variant G （G/G, 3.0 % ）, however, there was no significant difference （Х^2 = 5. 849, P = 0. 054）. Comparison of genotype frequencies of the wild-type （A/A） and integrated mutant types （A/G＋ G/G） between the cases and the controls revealed a significant difference （Х^2= 4. 576, P = 0. 032）. Allelic frequencies of OPRM1 118 A and G were 0. 823 and 0. 177 in the controls, 0. 732 and 0. 268 in sporadic PD cases, respectively. The minor allele G significantly increased in PD cases （Х^2 = 5. 932, P = 0. 015, OR = 1. 702,95% CI ： 1. 107- 2. 617）, indicating that allele G of OPRM1 118 was strongly associated with PD pathogenesis. Conclusions OPRM1 A118G might be a potential susceptibility locus leading to sporadic Parkinson＇ s disease in Chinese.
出处
《中华疾病控制杂志》
CAS
2010年第3期187-191,共5页
Chinese Journal of Disease Control & Prevention
基金
国家自然科学基金(30470591)
安徽省自然科学基金(050430716
090413114)
安徽省"十五"高校学科拔尖人才基金(2005(179))
关键词
帕金森病
Mμ阿片受体基因
多态性
单核苷酸
焦磷酸测序
Parkinson disease
Mu-opioid receptor gene
Polymorphism, single nucleotide
Pyrosequencing
