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2.
Eur J Neurol ; 15(10): 1080-4, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18717723

RESUMO

AIMS: Previous studies have reported the presence of low-grade inflammation in Alzheimer disease (AD). Based on these data, our work attempts to investigate the effects of some promoter polymorphisms of pro-inflammatory cytokines [interleukin (IL)-1 alpha and IL-1 beta] on AD. PATIENTS AND METHODS: A PCR-RFLP technique was used to analyze the promoter polymorphisms of both IL-1 alpha (-889 C/T) and IL-1 beta (-511 C/T) and the APOE genotype from the DNA samples of 282 patients (according to NINCDS-ADRDA criteria) and 312 control subjects. RESULTS: (i) The risk of developing AD in our population was associated with the IL-1 beta (-511 C/T) promoter polymorphism; (ii) such risk was independent of the risk factor allele in the APOE gene (APOE4); and (iii) the IL-1 alpha promoter polymorphism (-889 C/T) was not associated with the disease. CONCLUSION: In our population, IL-1 beta promoter polymorphism (-511 C/T) is an independent risk factor for AD.


Assuntos
Doença de Alzheimer/genética , Interleucina-1alfa/genética , Interleucina-1beta/genética , Polimorfismo Genético , Regiões Promotoras Genéticas/genética , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/epidemiologia , Apolipoproteínas E/genética , Estudos de Casos e Controles , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Espanha/epidemiologia
3.
Rev Neurol ; 40(10): 594-7, 2005.
Artigo em Espanhol | MEDLINE | ID: mdl-15926131

RESUMO

INTRODUCTION: Multiple sclerosis (MS) is a demyelinating disease affecting the central nervous system with an unknown origin, although the immunological system plays a crucial role in its pathogenesis. It has been observed that the relatives of MS patients very often have other autoimmune diseases (ADs) and it has been suggested that there may be susceptibility genes that are common to this group of diseases. AIMS: Our aim was to estimate the prevalence of ADs in first and second degree relatives of patients with MS and to determine the coexistence of other ADs in MS patients. PATIENTS AND METHODS: We selected 251 patients with MS defined by the Poser criteria and face-to-face interviews with the patients and/or their relatives were conducted to investigate the following ADs: MS, rheumatoid arthritis, systemic lupus erythematosus, polyarteritis nodosa, autoimmune thyroid disease (ATD), inflammatory bowel disease, myasthenia gravis, type I diabetes mellitus (DMI) and psoriasis. RESULTS. 29.9% of the patients with MS had a first and/or second degree relative with an AD. Prevalence of ADs in first degree relatives was 15.5%, 30% in familial MS and 40% if the patient had both MS and another AD. The most frequent ADs were: MS 27%, psoriasis 18%, ATD 16% and DMI 15%. 15 patients had MS and another AD: six ATD, three DMI, four psoriasis, one inflammatory bowel disease and one myasthenia gravis. CONCLUSIONS: These findings lend support to the existence of susceptibility genes that are common to the different ADs and would act as risk factors.


Assuntos
Doenças Autoimunes/genética , Predisposição Genética para Doença , Esclerose Múltipla/genética , Doenças Autoimunes/imunologia , Doenças Autoimunes/fisiopatologia , Comorbidade , Estudos Transversais , Humanos , Esclerose Múltipla/imunologia , Esclerose Múltipla/fisiopatologia
4.
Neuroepidemiology ; 24(1-2): 70-5, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15459512

RESUMO

OBJECTIVES: To determine the prevalence and incidence of multiple sclerosis (MS) in the city of Las Palmas (Canary Islands, Spain), geographically belonging to north-western Africa, but with European ancestry. METHODS: This population-based survey was conducted for a period of 5 years (1998-2002) in a Sanitary District of Las Palmas city (28 degrees 20' N), with a population of 82,623 inhabitants. Multiple sources were periodically investigated for case ascertainment. Patients with definite and probable MS were included. RESULTS: Sixty-four patients with MS were identified on prevalence day, December 31, 2002. According to Poser's criteria the crude prevalence rate was 77.5 per 100,000 (95% CI: 59.7-98.9). This rate decreased to 73.8 (95% CI: 56.5-94.8) according to McDonald's criteria. Age-adjusted rates for the world and European standard populations were 61.6 (95% CI: 47.1-78.9) and 70.6 (95% CI: 55-89), respectively. Prevalence was higher for women aged 25-44 years. In 17 patients onset of MS occurred within the study period. Average annual incidence was 4.1 per 100,000 (95% CI: 2.4-6.6). CONCLUSIONS: The prevalence and incidence rates in Las Palmas city are close to those reported from Continental Spain and other countries of southern Europe with similar social and ethnic background. These results highlight the role of racial-ethnic factors in the genesis of MS.


Assuntos
Esclerose Múltipla/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Etnicidade , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , População , Grupos Raciais , Fatores Sexuais , Espanha/epidemiologia
5.
Rev Neurol ; 38(7): 615-8, 2004.
Artigo em Espanhol | MEDLINE | ID: mdl-15098180

RESUMO

OBJECTIVES: Apolipoprotein E (ApoE) gen has been found to confer risk for Alzheimer disease in every population studied. We are interested in analyzed the exonic variants and the promoter polymorphisms in our Canary population. SUBJECTS AND METHODS: By means of PCR RFLP analysis of DNA from patients (NINCS ADRDA criteria) and controls (cognitive state CAMCOG test measured) we analyzed the known exonic and promoter polymorphism of ApoE gen. RESULTS: We have found an association of Alzheimer disease risk based on exonic variants of ApoE gen, with a clear cut dose effect on susceptibility and no risk conferred by the promoter polymorphisms. Age at onset are not affected by variants of ApoE gen, and patients gender strongly modulate the disease susceptibility. CONCLUSION: We have found in our Canary population an association between Alzheimer disease with exonic variants of ApoE gen with a strong modulation by the patients gender.


Assuntos
Doença de Alzheimer/epidemiologia , Apolipoproteínas E/genética , Fatores Sexuais , Idade de Início , Idoso , Alelos , Doença de Alzheimer/genética , Apolipoproteína E4 , Ilhas Atlânticas/epidemiologia , Éxons/genética , Feminino , Dosagem de Genes , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Regiões Promotoras Genéticas/genética , Isoformas de Proteínas/genética , Risco , Espanha/epidemiologia
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