CAJ | 학술논문

目的探讨α-突触核蛋白(SNCA)基因rs3822086位点多态性、单胺氧化酶B(MAOB)基因内含子13 G/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MA OB内含子13 G/A多态性对PD患病的影响.结果 (1)SNCA基因rs3822086 T等位基因与年龄≥60岁的PD患者间存在正关联(OR=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)MA OB基因内含子13 A/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B3822086位点C/C基因型的协同作用与其存在负关联(OR=0.406,95％CI=0.181～0.915).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.MA OB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/A基因型与SNCA基因rs3822086位点C/T基因型间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.
목적 탐토α-돌촉핵단백(SNCA)기인rs3822086위점다태성、단알양화매B(MAOB)기인내함자13 G/A다태성적독립급연합작용대신강지구파금삼병(PD)유전역감성적영향.방법 응용취합매련반응-한제성편단장도다태성분석법(PCR-RFLP)분석신강지구232례산발성PD(IPD)환자화242례건강대조자적SNCA기인rs3822086위점다태성급MA OB내함자13 G/A다태성대PD환병적영향.결과 (1)SNCA기인rs3822086 T등위기인여년령≥60세적PD환자간존재정관련(OR=1.37,95％CI=1.030～1.821),이C등위기인、C/C기인형여기존재부관련(C등위기인:OR=0.73,95％CI=0.549～0.971;C/C기인형:OR=0.546,95％CI=0.349～0.854).(2)MAOB기인내함자13A등위기인여년령≥70세적PD환자간존재정관련(OR=1.90,95％CI=1.044～3.458),이G등위기인여기존재부관련(OR=0.526,95％CI=0.289～0.958).(3)MA OB기인내함자13 A/A기인형화SNCA기인rs3822086위점C/T기인형적협동작용여녀성PD환자간존재정관련(OR=2.271,95％ CI=1.105～4.667),이화SNCA기인B3822086위점C/C기인형적협동작용여기존재부관련(OR=0.406,95％CI=0.181～0.915).결론 SNCA기인rs3822086위점T등위기인가능증가신강지구년령≥60세개체PD적발생풍험,이기C등위기인、C/C기인형칙작용상반.MA OB기인내함자13A등위기인가능증가신강지구년령≥70세개체PD적발생풍험,이기G등위기인칙작용상반.MAOB기인내함자13 A/A기인형여SNCA기인rs3822086위점C/T기인형간적협동작용가능증가신강지구녀성개체PD적발생풍험,이기여SNCA기인rs3822086위점C/C기인형간적작용칙상반.
Objective To investigate the independent and synergic roles ofpolymorphisms of alpha-synuclein (SNCA) gene rs3822086 site and monoamine oxidase B (MAOB) 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=l.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 the females (OR=2.271,95％CI=1.105-4.667),while synergistic effect of MAOB 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.