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Alzheimer's disease (AD) is one of most common neurodegenerative diseases, which gradually begins and develops after 65 years old, presenting as progressive and irreversible memory loss and other cognitive decline, and finally causes dementia and disability. Therefore, early diagnosis, timely treatment and effective prevention of AD have been become important clinical and scientific problems. During the period of Twelfth Five-Year Plan for National Economic and Social Development, our team have engaged in AD diagnosis and treatment for a long time and carried out studies in the field of pathogenesis, epidemiology, screening of risk factors, neuropsychological tests, imaging, biomarkers and early intervention of AD. This paper has summarized these research achievements. [ABSTRACT FROM AUTHOR]

Background/Aims: As a suitable test to screen for Alzheimer's disease (AD) or mild cognitive impairment (MCI), studies to validate the Chinese version of Addenbrooke's Cognitive Examination-Revised (ACE-R) are rare. Methods: A total of 151 subjects were recruited and the neuropsychological assessments were employed. One-way analysis of variance and Bonferroni correction were used to compare scores of different psychometric scales. Intraclass correlation coefficient (ICC) and Cronbach's coefficient α were used to evaluate the reliability of psychometric scales. The validity of ACE-R to screen for mild AD and amnestic subtype of MCI (a-MCI) was assessed by receiver operating characteristic (ROC) curves. Results: The Chinese ACE-R had good reliability (inter-rater ICC = 0.994; test-retest ICC = 0.967) as well as reliable internal consistency (Cronbach's coefficient α = 0.859). With its cutoff of 67/68, the sensitivity (0.920) and specificity (0.857) were lower than for the Mini-Mental State Examination (MMSE) cutoff (sensitivity 1.000 and specificity 0.937) to screen for mild AD. However, the sensitivity of ACE-R to screen for a-MCI was superior to the MMSE with a cutoff of 85/86. The specificity of ACE-R was lower than that of the MMSE to screen for a-MCI. The area under the ROC curve of ACE-R was much larger than that of the MMSE (0.836 and 0.751) for detecting a-MCI rather than mild AD. Conclusion: The Chinese ACE-R is a reliable assessment tool for cognitive impairment. It is more sensitive and accurate in screening for a-MCI rather than for AD compared to the MMSE. © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Abstract: Several previous studies on the relationship between the insulin-degrading enzyme (IDE) gene and Alzheimer’s disease (AD) have connected certain genetic variants to late-onset AD, in the absence of the apolipoprotein E (APOE)ε4 allele. However, the conclusions of these studies remain controversial. We investigated the association between two polymorphisms of IDE with AD in the Chinese population and found that the T/A genotype of rs4646958 had an important role in AD (adjusted p =0.007, odds ratio [OR]=2.796, 95% confidence interval [CI]=1.330–5.878), under the co-dominant genetic model. The T/C genotype of rs1887922 was also significantly associated with AD compared to the T/T genotype (adjusted p =0.003, OR=2.644, 95% CI=1.407–4.970). The C allele of rs1887922 conferred a higher risk of AD under the dominant genetics model (adjusted p =0.001, OR=2.719, 95% CI=1.472–5.022). Compared with the two other variant genotypes, the T/T genotype showed a protective effect in both polymorphisms (adjusted p =0.007, OR=0. 358, 95% CI=0.170–0.752 for rs4646958; adjusted p =0.001, OR=0. 368, 95% CI=0.199–0.679 in rs1887922). In the context of APOEε4-negative status, both variants were significantly associated with AD in some genetic models. [Copyright &y& Elsevier]

Objective: We conducted a case–control study to investigate whether clusterin polymorphism (rs11136000) was associated with late-onset Alzheimer’s disease in Chinese Han population. Methods: Polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) assay was performed on genotype rs11136000 and APOEε4 in 127 patients with late-onset Alzheimer’s disease and 143 control individuals. Previous published data from other Chinese samples was also included for further meta-analysis. Results:APOEε4 was demonstrated to increase the risk of Alzheimer’s disease in Chinese population (odds ratio = 2.35, 95% confidence interval: 1.40-3.96). There is no significant association between clusterin rs11136000 with late-onset sporadic AD in our small cohort. However, meta-analysis revealed significant allele and genotype differences between Alzheimer’s disease and controls following a recessive model. Conclusion: Clusterin (rs11136000) was associated with Alzheimer’s disease in Chinese Han population. [ABSTRACT FROM PUBLISHER]

Abstract: Our objective is to evaluate the relationship between the rs11754661 polymorphism of the MTHFD1L gene and Alzheimer''s disease (AD) in the ethnic Chinese Han. We conducted a case-control study (n=380, age>50) to determine the prevalence of one common single-nucleotide polymorphism (SNP) of MTHFD1L (rs11754661) in patients with AD in Chinese population of Mainland China, and clarified whether this polymorphism is a risk factor for AD. The prevalence of the minor allele (A) in the rs11754661 polymorphism was significantly different in AD patients and control subjects (P <0.01). The rs11754661 polymorphism was associated with AD in the ethnic Chinese Han (OR=1.829, 95% CI: 1.277–2.619, P =0.001), and the results were influenced by APOE status. Our data revealed that the allele (A) of the rs11754661 polymorphism within MTHFD1L gene may contribute to AD risk in the Chinese Han population. [Copyright &y& Elsevier]

Abstract: Background: LRP2 (also called megalin) plays a potential key role in the pathogenesis of Alzheimer''s disease (AD). Recently, one genome-wide association study has revealed that the rs3755166 (G/A) polymorphism located in the LRP2 promoter is associated with development of AD in Caucasians, while there are no studies on the association LRP2 of with AD risk in Asians. Methods: To evaluate the relationship between the rs3755166 polymorphism of the LRP2 gene and AD in the ethnic Chinese Han, we conducted a case-control study (n=361, age>50) to determine the prevalence of one common single-nucleotide polymorphism (SNP) of LRP2 (rs3755166) in patients with AD in Chinese population of Mainland China, and clarified whether this polymorphism is a risk factor for AD. Results: The prevalence of the minor allele (A) in the rs3755166 polymorphism was significantly different in AD patients and control subjects (P<0.05). The rs3755166 polymorphism was associated with AD in the ethnic Chinese Han (OR=1.378, 95% CI: 1.017-1.867, P=0.039), and the results were not influenced by age, gender, or APOE status (P=0.441, P=0.94, P=0.432, respectively). Conclusion: Our data revealed the allele (A) of the rs3755166 polymorphism within LRP2 gene may contribute to AD risk in the Chinese Han Population. [Copyright &y& Elsevier]