RESUMO
In this study, the distribution of five Alzheimer's disease (AD)-related single nucleotide polymorphisms (SNPs) in the Han population was examined in combination with the evaluation of clinical cognition and brain pathological analysis. The associations among SNPs, clinical daily cognitive states, and postmortem neuropathological changes were analyzed in 110 human brains from the Chinese Academy of Medical Sciences/Peking Union Medical College (CAMS/PUMC) Human Brain Bank. APOE ε4 (OR = 4.482, P = 0.004), the RS2305421 GG genotype (adjusted OR = 4.397, P = 0.015), and the RS10498633 GT genotype (adjusted OR = 2.375, P = 0.028) were associated with a higher score on the ABC (Aβ plaque score, Braak NFT stage, and CERAD neuritic plaque score) dementia scale. These results advance our understanding of the pathogenesis of AD, the relationship between pathological diagnosis and clinical diagnosis, and the SNPs in the Han population for future research.
Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteína ADAM10 , Genética , Doença de Alzheimer , Genética , Patologia , Secretases da Proteína Precursora do Amiloide , Genética , Antiporters , Genética , Apolipoproteína E4 , Genética , Povo Asiático , Genética , Encéfalo , Patologia , Disfunção Cognitiva , Genética , Patologia , Predisposição Genética para Doença , Proteínas de Membrana , Genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
OBJECTIVE: The aim of this study was to examine the change in the hippocampal volume and shape in early-onset mild cognitive impairment (EO-MCI) associated with the APOE ε4 carrier state. METHODS: This study had 50 subjects aged 55–63 years, all of whom were diagnosed with MCI at baseline via the Korean version of the Consortium to Establish a Registry for Alzheimer's Disease Assessment Packet. The EO-MCI patients were divided into the MCI continued (MCIcont) and Alzheimer's disease (AD) converted (ADconv) groups 2 years later. The hippocampal volume and shape were measured for all the subjects. The local shape analysis (LSA) was used to conduct based on the 2-year-interval magnetic resonance imaging scans. RESULTS: There was a significant correlation between APOE ε4 allele and hippocampal volume atrophy. Over two years, the volume reduction in the left hippocampus was found to be faster than that in the right hippocampus, especially in the APOE ε4 carriers. LSA showed that the 2 subfields were significantly affected in the left hippocampus. CONCLUSION: These results suggest that the possession of APOE ε4 allele may lead to greater predilection for left hippocampal atrophy in EO-MCI, and some specific subfields of the hippocampus may be more prominently involved.
Assuntos
Humanos , Alelos , Doença de Alzheimer , Apolipoproteínas E , Atrofia , Portador Sadio , Hipocampo , Imageamento por Ressonância Magnética , Disfunção CognitivaRESUMO
Objective To explore the value of urine formaldehyde test in the diagnosis of Alzheimer's disease (AD),and the influential factors of urine formaldehyde level in AD patients.Methods A total of 52 AD patients and 53 cognitively normal controls were recruited in a cohort study.All subjects were no less than 65 years old,and those with acute infection,or dysfunction in heart,liver or kidneys were excluded.The impact of age,gender,onset age,MMSE score,NPI score,MTA score,and ApoE ε4 gene on urine formaldehyde of AD patients were analyzed by multiple regression analysis.Results Urine formaldehyde level of AD group was statistically higher than that of cognitively normal control group ((13.27±4.16)μmol/L vs (10.76±4.47)μmol/L,t=2.99,P=0.15).Urine formaldehyde of AD patients was statistically negatively correlated with MMSE score (β=-0.35,P=0.03) and MTA score (β=-0.38,P=0.02).The impact of onset age,neuropsychiatric disorders and ApoE ε4 gene on urine formaldehyde of AD patients was not statistically significant(all P>0.05).Conclusion Urine formaldehyde level is worthwhile to be explored as a marker in AD diagnosis and severity assessment.