摘要
目的研究新疆维、汉两民族阿尔茨海默病(Alzheimers disease,AD)患者的α2-巨球蛋白基因(α2-macroglobulin,A2M)多态性,探讨该基因在维、汉不同族别中基因型及等位基因频率的差异。方法在对新疆维、汉两民族≥50岁常住居民共计8284人所进行的AD流行病学调查基础上,随机抽取209例散发AD患者,平均年龄(74.2±12.6)岁,其中维吾尔族111例,汉族98例;匹配的正常对照220名,平均年龄(73.8±13.1)岁,其中维吾尔族117名,汉族103名,进行病例对照研究。用PCR-RFLP技术分析A2M基因I1000V多态性。结果AD患者等位基因A2M-I1000V的频率为8.61%,高于对照组的3.64%(P<0.05)。汉族人群A2M的I/I基因型及等位基因I频率高于维族(P<0.05),而维族人群中I/V基因型及等位基因V的频率高于汉族(P<0.05)。不伴有ApoEε4的AD组与对照组间,A2M基因中I/V基因型分布AD组高于对照组(P<0.05)。结论新疆维、汉两民族AD患者与A2MI1000V多态性有关,且A2M基因型及等位基因频率分布表现出明显的族别、性别的差异性,A2M可能独立于ApoEε4而对AD的发生起一定作用。
Objective To study the A2M gene polymorphism in Xinjiang Uygurs and Hans AD patients. Methods On the basis of epidemiological survey, 209 cases of sporadic AD patients with average age （74.2 ± 12.6） years were randomly selected consisting of 111 cases of Uygur and Han 98 cases. Matched normal subjects 220 with the average age （73.8 ± 13.1 ） years including 117 cases of Uygur and Han 103 cases served as controls for the case-control study. A2M gene I1000V polymorphism was analyzed using restriction fragment length polymorphism methods. Results A2M-I1000V allele frequencies were 8. 61% which was higher in AD group than 3.64% in control group （P 〈0. 05）. The I/I genotype and the allele I frequency were higher in Han crowd than in the Uygur national minority. However, the I/V genotype and the allele V frequency in the Uygur national minority crowd was higher than in the Han Nationality （ P 〈 0. 05 ）. The frequency of I/V genotype of A2M gene was higher in AD group than in control group among population without ApoEε4 （ P 〈 0. 05 ）. Condusions AD is associated with A2MI100V polymorphism in both Xinjiang Uygur and Han nationalities and A2M genotype and allele frequency distribution is different between Xinjiang Uygur and Han nationalities. A2M might have a role in the development of AD independent of the ApoE ε4.
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2008年第6期334-337,共4页
Chinese Journal of Nervous and Mental Diseases
基金
国家自然科学基金资助项目(编号:30460140)
