中央执行功能与单胺氧化酶A、多巴胺β羟化酶基因功能多态性的关联研究

Association analysis of central executive function with the functional polymorphisms in monamime oxidase A and dopamine-β-hydroxylase

目的 探讨中央执行功能与单胺氧化酶A（MAOA）和多巴胺β羟化酶（DBH）基因的相关性.方法 采用国际上广泛采用的认知测验范式,测量西安某大学719大学新生的中央执行功能成绩,分析了MAOA基因启动子区的30-bp可变串联重复序列和和DBH基因启动子区的-C1021T多态性功能位点与中央执行功能子成分（抑制、转换、刷新）的相关性.结果 MAOA基因的30-bp可变串联重复序列在男性群体中3r基因型个体抑制测验的反应时[（671.32±9.77）ms]短于4r基因型个体抑制测验的反应时[（706.61±14.58）ms],且差异有统计学意义（x2=4.82,P=0.03）,3r基因型个体刷新测验的刷新数目多于[（47.85±0.69）个]4r基因型个体的刷新数目[（45.13±1.05）个],并差异有统计学意义（x2=4.50,0.03）;DBH基因的-1021C/T位点在男性和女性人群中均与央执行功能的3个子成分无显著相关性（P＞0.05）.结论 MAOA基因启动子区的30-bp可变串联重复序列在男性群体中与抑制和刷新功能有显著相关性,而DBH基因的-1021C/T位点男女不同性别中均与抑制、转换和刷新3子成分无显著相关性.

Objective To explore the associations of the sub-components of central executive function （ inhibition, shifting and updating） with monoamine oxidase A （ MAOA ） and dopamine-β-hydroxylase （ DBH ）.Methods The cognitive performance of the 719 healthy individuals,who were selected randomly from an university in Xi＇ an,was assessed by the world wide used paradigms of central executive function. Then, a populationbased study was performed to analysis the associations of central executive function with the 30-bp variable number tandem repeat and -C1021T in the promoters of MAOA and DBH ,respectively. Results The results indicated that the 30-bp variable number tandem repeat of MAOA was associated with the performance of inhibition and updating （ x2 = 4.82,4.50; P= 0. 03,0.03 ） in males. The reaction time of inhibition test was shorter in 3r genotype group （ （671.32 ±9.77 ）ms） than that in 4r genotype group （ （706.61 ± 14.58 ） ms） ,and the indivudals with 3r genotype （47.85 ±0. 69） had more updating numbers than the indivudals with 4r （45.13 ± 1. 05）. However, there was no significant association of the -C1021T and DBH with the components of excutive function （P〉0.05）. Conclusion The present study suggests that the 30-bp variable number tandem repeat of MAOA contributs to the inhibition in males while -C1021T of DBH has no striking effects on the components of executive function in males and females.