RESUMO
Platelet aggregation is crucial for the development of cerebral infarction (CI) and it is markedly increased due to the binding of thromboxane A2 (TXA2) to its receptor (TXA2R). Therefore, TXA2R plays a central role in the pathogenesis of atherosclerosis and thrombosis. This study aimed to investigate the relationship between human TXA2R gene single nucleotide polymorphisms (SNPs) and non-cardiogenic CI in a Chinese cohort. Two SNPs, rs768963 and rs4523, located in the regulatory and coding regions of TXA2R gene, respectively, were examined in DNA samples from 407 Chinese patients with CI and 270 controls. 407 CI was categorized into subtypes using Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification. There was no significant association between rs4523 variants and CI. However, there was a significant difference in the overall distribution of genotypes and dominant/recessive models of rs768963 between CI and control groups. In addition, multiple logistic regression analysis revealed that the C allele of rs768963 was significantly associated with total CI (P = 0.023), large artery atherosclerosis subtype (P = 0.009), small artery occlusion subtype (P = 0.044) after adjusting for confounding factors (odds ratio = 1.533, 1.918 and 1.573, respectively). We conclude that TXA2R rs768963 polymorphism is associated with CI in a Chinese population.
Assuntos
Infarto Cerebral/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Receptores de Tromboxano A2 e Prostaglandina H2/genética , Idoso , Idoso de 80 Anos ou mais , Povo Asiático/genética , Infarto Cerebral/sangue , Colesterol/sangue , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Lipoproteínas HDL/sangue , Lipoproteínas LDL/sangue , Modelos Logísticos , Masculino , Pessoa de Meia-IdadeRESUMO
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.
Assuntos
Doença de Alzheimer/enzimologia , Doença de Alzheimer/genética , Insulisina/genética , Polimorfismo de Nucleotídeo Único/genética , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/etnologia , Povo Asiático/genética , Química Encefálica/genética , China/epidemiologia , Feminino , Predisposição Genética para Doença/genética , Humanos , MasculinoRESUMO
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.
Assuntos
Doença de Alzheimer/genética , Clusterina/genética , Polimorfismo Genético , Idoso , Idoso de 80 Anos ou mais , Alelos , Doença de Alzheimer/epidemiologia , Apolipoproteínas E/metabolismo , Povo Asiático/etnologia , Povo Asiático/genética , Estudos de Casos e Controles , China , Estudos de Coortes , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Razão de ChancesRESUMO
ATP13A2 (PARK9) mutations are related to Kufor-Rakeb syndrome (KRS). We performed genetic analysis of the Ala746Thr variant in an independent cohort of the patients with PD and healthy controls from mainland China. The Ala746Thr variant was present in 1/532 (0.19%) of PD compared with 1/480 (0.21%) of healthy controls (odds ratio=0.90, 95% CI 0.06, 14.39, P=1.00). The two subjects carried the heterozygous genotype. Subset analysis in the group 50 years of age showed 0% in PD versus 0.3% in healthy controls. We did not observe a significant association between Ala746Thr and Parkinson's disease in Han Chinese population, even after stratification by age at onset. The results suggested that Ala746Thr variant was not a major susceptible factor for PD in Han Chinese people.
