摘要
目的探讨α-突触核蛋白（SNGA）基因rs3822086位点多态性、单胺氧化酶B（MAOB）基因内含子13G／A多态性的独立及联合作用对新疆地区帕金森病（PD）遗传易感性的影响。方法应用聚合酶链反应-限制性片段长度多态性分析法（PCR-RFLP）分析新疆地区232例散发性PD（IPD）患者和242例健康对照者的SNCA基因rs3822086位点多态性及MAOB内含子13G／A多态性对PD患病的影响。结果（1）SNCA基因rs3822086T等位基因与年龄≥60岁的PD患者间存在正关联（on=1．37，95％CI=1．030～1．821），而C等位基因、C／C基因型与其存在负关联（C等位基因：OR=0．73，95％CI=0．549-0．971；C／C基因型：OR=0．546，95％CI=0．349～0．854）。（2）MAOB基因内含子13A等位基因与年龄≥70岁的PD患者间存在正关联（OR=1．90，95％CI=1．044～3．458），而G等位基因与其存在负关联（OR=0．526，95％CI=0．289～0．958）。（3）MAOB基因内含子13A／A基因型和SNCA基因rs3822086位点C／T基因型的协同作用与女性PD患者间存在正关联（OR=2．271．95％CI=1．105-4．667），而和SNCA基因rs3822086位点C／C基因型的协同作用与其存在负关联（OR=0．406．95％CI=0．181-0．9151。结论SNCA基因rs3822086位点T等位基因可能增加新疆地区年龄≥60岁个体PD的发生风险，而其C等位基因、C／C基因型则作用相反。MAOB基因内含子13A等位基因可能增加新疆地区年龄≥70岁个体PD的发生风险，而其G等位基因则作用相反。MAOB基因内含子13～A基因型与SNCA基因rs3822086位点C／T基因型问的协同作用可能增加新疆地区女性个体PD的发生风险，而其与SNCA基因rs3822086位点C／C基因型间的作用则相反。
Objective To investigate the independent and synergic roles of polymorphisms of alpha-synuclein （SNCA） gene rs3822086 site and monoamine oxidase B （MA OB） gene intron 13 G/A in genetic susceptibility to Parkinson＇s disease （PD） in Xinjiang region. Methods The polymorphisms of SNCA gene rs3822086 site and MA OB gene intron 13 G/A were determined by polymerase chain-reaction restriction fragment length polymorphism （PCR-RFLP） in 232 patients with idiopathic Parkinson＇s disease （IPD） and 242 health controls in Xinjiang. Results SNCA gene rs3822086 T allele was in positive correlation with PD of age 〉/60 years （OR=1.37, 95%CI=1.030-1.821）, while C allele and C/C genotype were in negative correlation with PD of age ≥60 years （C allele： OR=0.73, 95% CI= 0.549-0.971; C/C genotype： OR=0.546, 95%CI=0.349-0.854）. MAOB gene intron 13 A allele was in positive correlation with PD ofage≥70 years （OR=1.90, 95%CI=1.044-3.458）, while G allele was in negative correlation with it （OR=0.526, 95%CI=0.289-0.958）. Synergistic effect ofMA OB gene intron 13 A/A genotype and SNCA gene rs3822086 C/T genotype was in positive correlation with PD of thefemales （OR=2.271, 95% CI=1.105-4.667）, while synergistic effect of MA OB gene intron 13 A/A genotype and SNCA gene rs3822086 C/C genotype was in negative correlation with it （OR=0.406, 95% CI=0.181-0.915）. Conclusions SNCA gene rs3822086 T allele might increase the risk of PD of aged ≥60 years individuals in Xinjiang region, while C allele and C/C genotype are completely opposite. MA OB gene intron 13 A allele might increase the risk of PD of aged ≥70 years individuals in Xinjiang region, while G allele is completely opposite. The synergistic function of MA OB gene intron 13 A/A genotype and SNCA gene rs3822086 C/T genotype might increase the risk of PD in female individuals in Xinjiang region, while the synergistic function of MA OB gene intron 13 A/A genotype and SNCA gene rs3822086 C/C genotype is completely opposite.
出处
《中华神经医学杂志》
CAS
CSCD
北大核心
2013年第10期1021-1027,共7页
Chinese Journal of Neuromedicine
基金
兵团科技计划资助项目（2011BA047）
