摘要
目的探讨胆固醇相关基因ABCA1外显子R219K遗传变异对阿尔茨海默病(AD)发病风险及认知功能的影响。方法采用病例对照研究方法测定湖南长沙地区汉族人群104例散发性AD患者以及104名60岁以上认知功能正常者的ABCA1R219K基因多态性。采用SPSS13.0软件进行统计分析。结果两组间RR、RK及KK3种基因型分布差异有统计学意义(Χ^2=8.777,P=0.012),AD组KK型频率显著低于对照组(Χ^2=5.261,P=0.022)。AD组(RK+KK)型频率较对照组显著降低(54.8%&70.2%,P=0.022)。KK型及K等位基因携带者血浆HDL-C、apoA-I水平增高,差异有统计学意义(P〈0.05)。在总体研究人群中,KK型及RK+KK型携带者的MMSE评分以及WMS评分显著增高(P〈0.05);进一步按照长时记忆、短时记忆和瞬时记忆3种记忆类型分析,与RR型相比,RK、KK型及RK+KK型携带者的短时记忆及瞬时记忆得分显著增高(P〈0.05),而长时记忆得分的比较差异无统计学意义(P〉0.05)。Logistic回归结果表明K等位基因携带是AD发病的独立保护因素。结论ABCA1R219K变异与AD的发病有关,K等位基因携带对血脂及认知功能可能产生有益作用,并对AD的发生可能有一定保护作用。
Objective To assess the effect of single-nucleotide polymorphisms (SNPs) in the cholesterol-related genes ABCA1 exon R219K variation on the risk of AD and cognitive function. Meth- ods Using case-control study, a total of sporadic 104 AD patients and 104 individuals above 60 years without cognitive impairment from a population of Chinese Han nationality in Changsha area were studied to determine the polymorphisms of ABCA1 R219K. Adopt SPSS 13. 0 for statistical analysis. Results There were significant differences in the frequencies of three genotypes (RR,RK and KK) between the AD patients and controls (Χ^2= 8. 777,P = 0. 012). The frequency of KK genotype in AD group is obviously lower than that of controls (Χ^2= 5. 261 ,P =0. 022). The frequency of KK+RK genotype in AD patients was 54.8%, was significantly lower than that of controls (70.2%, P =0. 022). There was significantly higher levels of HDL-C, apoA-I and cognitive scores in the carriers of KK genotype and K allele (P 〈 0.05). There was significantly higher levels of MMSE and WMS scores in the carriers of KK genotype and K allele (P〈0.05). Further in accordance with memory types including long-term memory, short-term memory, transient memory, compared with RR genotype, the scores of short-term memory, transient memory of RK, KK and RK+KK genotypes were higher (P〈 0.05), but there was no significant difference in the score of long-term memory (P 〉0.05). Multifactor logistic regression analysis showed that carrying K allele was a single protective factor for AD. Conclusions The polymorphism of ABCA1R219K is associated with AD. Carrying K allele may play a positive role in serum lipids and cognition, and produce a protective effect on risk of AD.
出处
《神经疾病与精神卫生》
2013年第3期235-239,共5页
Journal of Neuroscience and Mental Health
基金
湖南省科技计划项目(2009FJ3054)
中南大学2010年研究生创新课题计划(2010ssxt292)