RESUMO
OBJECTIVE: To investigate the associations of serum DNA methylation levels of chemokine signaling pathway genes with Alzheimer's disease (AD) and mild cognitive impairment (MCI) in elderly people in Xinjiang, China, and to screen out genes whose DNA methylation could distinguish AD and MCI. MATERIALS AND METHODS: 37 AD, 40 MCI and 80 controls were included in the present study. DNA methylation assay was done using quantitative methylation-specific polymerase chain reaction (qMSP). Genotyping was done using Sanger sequencing. RESULTS: DNA methylation levels of ADCY2, MAP2K1 and AKT1 were significantly different among AD, MCI and controls. In the comparisons of each two groups, AKT1 and MAP2K1's methylation was both significantly different between AD and MCI (p < 0.05), whereas MAP2K1's methylation was also significantly different between MCI and controls. Therefore, AKT1's methylation was considered as the candidate serum marker to distinguish AD from MCI, and its association with AD was independent of APOE ε4 allele (p < 0.05). AKT1 hypermethylation was an independent risk factor for AD and MAP2K1 hypomethylation was an independent risk factor for MCI in logistic regression analysis (p < 0.05). CONCLUSION: This study found that the serum of AKT1 hypermethylation is related to AD independently of APOE ε4, which was differentially expressed in the Entorhinal Cortex of the brain and was an independent risk factor for AD. It could be used as one of the candidate serum markers to distinguish AD and MCI. Serum of MAP2K1 hypomethylation is an independent risk factor for MCI.
Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Humanos , Idoso , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/genética , Metilação de DNA , Apolipoproteína E4/genética , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/genética , Transdução de Sinais/genética , Quimiocinas/genéticaRESUMO
OBJECTIVE: To assess the association of KCNE1 (rs1805127) and KCNE4 (rs12621643) polymorphisms with atrial fibrillation (AF) among ethnic Uygur and Han Chinese in Xinjiang. METHODS: A case-control study was carried out. The patients and controls were selected based on ethnicity, gender and age with an 1:1 ratio. DNA was extracted from peripheral blood samples. Genotypes of KCNE1 (rs1805127) and KCNE4 (rs12621643) were determined with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. RESULTS: Multivariate Logistic regression analysis showed KCNE1 (rs1805127) to be an independent risk factor for AF among Uygurs, while KCNE4 (rs12621643) was a risk factor for both Uygur and Han patients with AF (P < 0.05). The population attributable risk percentage (PARc%) of obstructive sleep apnea hpoventilation syndrome, obesity, hypertension, cholesterol, Hcy, hs-CRP, IL-6, KCNE1 (rs1805127) and KCNE4 (rs12621643) were 9.68%, 12.06%, 15.76%, 6.91%, 11.37%, 17.78%, 9.31%, 11.27% and 6.46% among the Uygurs, respectively. The PARc% of drinking, hypertension, cholesterol, Hcy, hs-CRP, IL-6, and KCNE4 (rs12621643) were 12.94%, 14.48%, 7.24%, 8.49%, 17.29%, 9.49% and 7.41% among Hans. CONCLUSION: The KCNE1 (rs1805127) appears to an independent risk factor for AF in the Uygur population. And the KCNE4 (rs12621643) was an independent risk factor for AF among both Uygurs and Hans. Management of the risk factors of AF based on testing of "risk genes" may have an impact on the prevention and treatment of AF.
Assuntos
Fibrilação Atrial/genética , Polimorfismo Genético , Canais de Potássio de Abertura Dependente da Tensão da Membrana/genética , Fibrilação Atrial/etiologia , Estudos de Casos e Controles , China/etnologia , Humanos , Fatores de RiscoRESUMO
OBJECTIVE: To investigate prevalence of atrial fibrillation (AF) in Uygur and Han elderly populations in Xinjiang Uygur autonomous region (Xinjiang). METHODS: Epidemiological survey was conducted among the residents selected through stratified random cluster sampling in the southern, northern and eastern Xinjiang. RESULTS: The overall AF prevalence among Uygur and Han elderly people was 3.56%. The crude prevalence of AF was 2.91% among Uygur elderly people and 4.13% among Han elderly people. The sex specific prevalence of AF were 3.19% and 2.61% among Uygur males and females respectively, and 5.01% and 3.31% among Han males and females respectively. The prevalence of valvular AF among Uygur ethnic group was higher than that in Han ethnic group; the prevalence of non-valvular and isolated AF in Han ethnic group were higher than those in Uygur ethnic group. The compliance of aspirin and ß-blocker medication among Han ethnic group was better than that in Uygur ethnic group. The compliance of warfarin medication was poor in both Uygur ethnic group and Han ethnic group. The prevalence of ischemic stroke were 8.82% and 0.98% in Uygur elderly people with or without AF. The prevalence of ischemic stroke were 6.08% and 0.70% in Han elderly people with or without AF. CONCLUSION: The prevalence of AF in elderly people in Xinjiang is similar to the results from other domestic studies, the prevalence of AF in Han elderly people was higher than that in Uygur elderly peoples.