RESUMO
OBJECTIVE: Oxidative stress plays an important role in Alzheimer's disease (AD) etiopathogenesis. There were several studies that showed impaired antioxidant defense system (ADS) enzymes expression or activity in AD patients. There are only few studies evaluating the importance of ADS gene single nucleotide polymorphisms (SNPs) as risk factors of AD. We evaluated association between chosen SNPs of the enzymes of the ADS and risk of AD. METHODS: We included 400 AD patients and 402 healthy controls. We studied rs1041740, rs4998557 and rs2070424 of the SOD1 gene, rs2855116, rs5746136 and rs4880 of the SOD2 gene and rs3448, rs1050450 and rs1800668 of the GPx-1 gene (real time PCR). To determine the APOE gene common polymorphism, two single-nucleotide polymorphisms (SNPs; NCBI SNPs rs429358 and rs7412) were genotyped (TaqMan assays, Applied Biosystems [ABI], Foster City, CA, USA). The genotype and gender frequencies were compared between the studied groups by the χ(2) test and mean age by the t-Student test. RESULTS: Among all studied SNPs only rs2070424 of the SOD1 gene was a protective factor for AD in an additive (OR=0.47; 95% CI=0.30-0.74, p=0.001) and recessive (OR=0.47; 95% CI=0.30-0.75, p=0.002) models including age, gender and APOE gene status. CONCLUSIONS: rs2070424 polymorphism of the SOD1 gene is a risk factor for AD in Polish population. Allel G and genotype AG and GG are protective factors for AD.
Assuntos
Doença de Alzheimer/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Superóxido Dismutase/genética , Idoso , Idoso de 80 Anos ou mais , Apolipoproteínas E/genética , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Polônia , Fatores de Risco , Superóxido Dismutase-1RESUMO
Deficits in emotional decoding abilities were described in patients with Alzheimer's dementia and amnestic type of mild cognitive impairment (a-MCI). However the pattern of decline and its dependency on the type of emotional stimuli has not been investigated so far. In our study, 5 sets of cartoon-like drawings portraying various human emotions of increasing complexity were presented to patients with very mild and mild Alzheimer's dementia, a-MCI and control subjects. Patients with Alzheimer's dementia, a-MCI and control subjects decoded emotions with similar accuracy. The pattern of decoding abilities was similar in Alzheimer's dementia, a-MCI patients and healthy control subjects. Decoding abilities depended on a manner the emotional stimuli were presented.
Assuntos
Doença de Alzheimer/diagnóstico , Amnésia/diagnóstico , Disfunção Cognitiva/diagnóstico , Progressão da Doença , Emoções , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/psicologia , Amnésia/psicologia , Disfunção Cognitiva/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estimulação Luminosa/métodosRESUMO
BACKGROUND AND PURPOSE: A few single nucleotide polymorphisms (SNPs) on chromosome 4q25, associated with atrial fibrillation (AF), are risk factors for ischaemic stroke. We studied the significance of the SNP rs2200733 on chromosome 4q25 in different types of cardioembolic (CE) stroke. MATERIAL AND METHODS: We genotyped 428 controls and 301 CE stroke patients, among whom 197 (65.4%) presented with high risk sources of embolism (CE stroke related to AF) and 104 with medium risk sources (CE stroke unrelated to AF). The SNP rs2200733 was analysed using real-time polymorphism chain reaction. RESULTS: Both univariate and multivariate regression analyses showed that the studied variant affected risk of all CE strokes or CE strokes related to AF in recessive and additive mo-dels. The two types of CE stroke differed significantly in demographics and distribution of vascular risk factors. CONCLUSIONS: The SNP rs2200733 on chromosome 4q25 is a risk factor for CE stroke related to AF only.
Assuntos
Fibrilação Atrial/genética , Cromossomos Humanos Par 4/genética , Polimorfismo de Nucleotídeo Único/genética , Acidente Vascular Cerebral/genética , População Branca/genética , Fibrilação Atrial/complicações , Frequência do Gene , Humanos , Análise de Regressão , Acidente Vascular Cerebral/complicaçõesRESUMO
BACKGROUND AND PURPOSE: Inflammation plays a prominent role in Alzheimer disease (AD) pathogenesis. Interleukin-6 (IL-6), a pro-inflammatory cytokine, and some genetic variations in the IL-6 gene have been reported to be associated with a risk of AD. However, the results of the conducted studies are equivocal. MATERIAL AND METHODS: We genotyped IL-6 (-174 C/G) and apolipoprotein E gene (APOE) common polymorphisms in a large case-controlled study in a Polish population. We included 361 patients aged ≥ 65 years with AD (mean age 75.8 ± 5.3 years, 232 females [64.3%]) and 200 controls (75.3 ± 7.4 years; 119 females [59.5%]), without any neurological deficit, cognitive complaints or history of neurological diseases. The IL-6 polymorphism was genotyped using TaqMan SNP allelic discrimination by means of an ABI 7900HT (Applied Biosystems, Foster City, CA). RESULTS: The distribution of the IL-6 (-174 C/G) genotypes was similar to that in the controls (AD: C/C = 15.79%, C/G = 51.25%, G/G = 32.96% vs. controls: C/C = 21.50%, C/G = 45.50%, G/G = 33.0%, p > 0.05). Our study confirms previous reports that APOE 4 is strongly related to the risk of AD (OR = 6.17; 95% CI: 4.01-9.49). APOE status did not affect the distribution of the studied IL-6 polymorphism. CONCLUSION: IL-6 (-174 C/G) polymorphism is not a risk factor for late onset AD in a Polish population.