Objective Alpha-2 macroglobulin (α2M) is a proteinase inhibitor found in association with senile plaques in Alzheimer's disease (AD). Also α2M has been implicated in several pathophysiological processes in AD. In view of the recent contradictory reports on the relationship between AD and a common polymorphism I1000V in A2M gene, the present authors studied a relatively large sample, determined the genotype of the I1000V polymorphism in A2M gene in sporadic AD patients and age-matched controls with normal cognition, and examined the possible association of the polymorphism with AD. Methods Genotypes of A2M and apolipoprotein E (apoE) were detected by polymerase chain reaction combined with restriction fragment length polymorphism in 257 patients and 242 controls in Guangzhou, and 112 patients and 113 controls in Chengdu. Results The A2M-1000Val allele frequencies in the merged AD and control groups were 7.7% and 8.7%, respectively. The differences of allelic and genotypic frequencies between the patients and control subjects were not statistically significant, even after stratification by apoE-epsilon4 status or by age-of-onset of the disease. Conclusion The results of this study revealed no association between the I1000V polymorphism of A2M and Chinese sporadic AD in Guangzhou and Chengdu.%目的近年来有研究发现α2-巨球蛋白基因(α2-macroglobulin, A2M)Ile1000Val多态与阿尔茨海默氏病(Alzheimer's disease, AD)发病有关联,但也有相悖的研究结果报道.因此,我们利用较大的样本,观察了 A2M基因Ile1000Val多态在广州及成都地区汉族老年人中的分布,并探讨其与散发AD的相关性.方法以广州地区257例散发AD患者和242名正常老年人、成都地区112例散发AD患者和113名正常老年人为对象进行病例-对照研究.用聚合酶链反应-限制性片段长度多态性方法分析 A2M基因I1000V多态性和载脂蛋白E基因(apolipoprotein E, apoE)多态性.结果 (1)在两地合并样本中,AD患者与对照组中等位基因A2M-1000V的频率分别为7.7%与8.7%,广州与成都地区AD患者与对照组中 A2M基因I1000V多态的分布差异无统计学意义.(2)散发AD无论按是否伴有apoE-ε4或按发病年龄分成不同亚组后, A2M基因I1000V多态的分布在病例组与对照组之间差异无统计学意义.结论广州与成都汉族人群中 A2M基因I1000V多态与散发AD不具有关联.
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