Search

Purpose: Recently, a large genome-wide association study has revealed that polymorphism of alleles and genotypes in rs3,764,650 within ABCA7 gene is associated with Alzheimer disease in whites. We conducted a case-control study to investigate whether these susceptible genetic variants are risk factors for sporadic Alzheimer disease (SAD) in Chinese Han population., Design and Methods: A total of 633 participants consisting of 350 SAD and 283 nondemented elderly controls matched for sex and age were recruited and genetic variants in ABCA7 (rs3,764,650) were genotyped using DNA sequencing., Results: On the basis of allele and genotype frequencies in both groups, we found a significant association (P=0.004) between ABCA7 genotypes and SAD in Chinese Han population, and the results were influenced by age and ApoEε4 status. ApoEε4-carrier and aging are linked to enhancing ABCA7 risk-associated SAD. However, the prevalence of the minor allele G in rs3,764,650 within ABCA7 showed no significant difference between the 2 groups in this study., Conclusions: ABCA7 (rs3,764,650) was associated with SAD in the Chinese population, with both ApoEε4-carrier and aging being factors enhancing its risk.

Purpose: To assess genetic variations of GAB2 as a risk factor for developing Alzheimer disease (AD)., Design and Methods: A case-control study (n=310; age>50 y) was conducted to determine the prevalence of 5 single nucleotide polymorphisms (SNPs) of GAB2 (rs2373115, rs1385600, rs4945261, rs7101429, and rs7115850) in patients with AD in Chinese population of mainland China, and was investigated whether these polymorphisms are risk factors for AD., Results: Our results supported a possible implication of 3 tested SNPs of GAB2 (rs4945261, rs7101429, and rs7115850) in AD in the ethnic Chinese Han, of which the maximal significance of association was at SNP rs7101429 C allele (P=4.0×10; odds ratio=2.0; 95% confidence interval, 1.4-2.8), and this observed association was not affected by APOEε4 genotype. In the haplotypes analysis, the minor alleles of the 3 tested SNPs were composed of a TCG haplotype, which had a significant difference in haplotype distribution between the 2 groups (P=3.4×10; odds ratio=8.32; 95% confidence interval, 4.57-15.14)., Conclusions: Our findings implicate an association between genetic variations of GAB2 and AD in Han Chinese, and the minor alleles of the 3 tested SNPs (rs4945261, rs7101429, and rs7115850) might increase the risk of AD.

Purpose: To evaluate the Chinese version of the Zarit Burden Interview (ZBI) as an instrument for measuring strain in Chinese caregivers of elderly people with dementia., Design and Methods: The objective of the present study was to carry out a metric analysis of a Chinese version of ZBI using a cross-sectional study. Patients and their caregivers completed a variety of questionnaires, including the Mini-Mental State Examination (MMSE), the Neuropsychiatric Inventory (NPI), the Geriatric Depression Scale (GDS), and the Hamilton Anxiety Scale (HAMA). Cronbach alpha coefficient was used to assess inter-item consistency, and a split half correlation coefficient was used to determine the internal consistency of the ZBI. Correlations between the ZBI and GDS, and the ZBI and HAMA were assessed for convergent validity. Correlations of the ZBI and MMSE, the ZBI and NPI were also calculated to evaluate the possible correlation of caregiver burden with the severity of cognitive impairment and neuropsychiatric symptoms., Results: There were 42 patients with dementia in the study. The intraclass correlation coefficient was 0.89 and the split half correlation coefficient was 0.87. The mean ZBI score was 24.40+/-14.68. Item-total (corrected) correlation showed significant coefficients (rs>0.33, P<0.05) for most items. There was a significant correlation between the ZBI and GDS (rs=0.57, P<0.001), and between the ZBI and HAMA (rs=0.44, P=0.003). Furthermore, there was a significant positive correlation between the ZBI and NPI, the ZBI and the agitation score, the ZBI and the apathy score, and the ZBI and MMSE., Conclusions: The Chinese version of ZBI meets some of the basic reliability and validity standards required for health status measures. Further studies could lead to a better understanding of the difficulties experienced by caregivers of patients suffering from dementia in China.