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Article ; Online: Cytokine IL-1 beta but not IL-1 alpha promoter polymorphism is associated with Alzheimer disease in a population from the Canary Islands, Spain.

Déniz-Naranjo, M C / Muñoz-Fernandez, C / Alemany-Rodríguez, M J / Pérez-Vieitez, M C / Aladro-Benito, Y / Irurita-Latasa, J / Sánchez-García, F

European journal of neurology

2008 Volume 15, Issue 10, Page(s) 1080–1084

Abstract: 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 ... ...

Abstract	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.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Apolipoproteins E/genetics ; Case-Control Studies ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Interleukin-1alpha/genetics ; Interleukin-1beta/genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Promoter Regions, Genetic/genetics ; Spain/epidemiology
Chemical Substances	Apolipoproteins E ; Interleukin-1alpha ; Interleukin-1beta
Language	English
Publishing date	2008-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1280785-0
ISSN	1468-1331 ; 1351-5101 ; 1471-0552
ISSN (online)	1468-1331
ISSN	1351-5101 ; 1471-0552
DOI	10.1111/j.1468-1331.2008.02252.x
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Article: Enfermedades autoinmunes y esclerosis múltiple.

Alemany-Rodríguez, M J / Aladro, Y / Amela-Peris, R / Pérez-Viéitez, M C / Reyes-Yáñez, M P / Déniz-Naranjo, M C / Sánchez-Garcia, F

Revista de neurologia

2005 Volume 40, Issue 10, Page(s) 594–597

Abstract: 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 ... ...

Title translation	Autoimmune diseases and multiple sclerosis.
Abstract	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.
MeSH term(s)	Autoimmune Diseases/genetics ; Autoimmune Diseases/immunology ; Autoimmune Diseases/physiopathology ; Comorbidity ; Cross-Sectional Studies ; Genetic Predisposition to Disease ; Humans ; Multiple Sclerosis/genetics ; Multiple Sclerosis/immunology ; Multiple Sclerosis/physiopathology
Language	Spanish
Publishing date	2005-05
Publishing country	Spain
Document type	English Abstract ; Journal Article
ZDB-ID	1468278-3
ISSN	1576-6578 ; 0210-0010
ISSN (online)	1576-6578
ISSN	0210-0010
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Article: Fuerte modulacion de genero sobre el riesgo conferido por el gen de la apolipoproteina E para la enfermedad de Alzheimer en la poblacion de las Islas Canarias, España.

Déniz Naranjo, M C / Muñoz Fernández, C / Alemany Rodríguez, M J / Pérez Viéitez, M C / Irurita Latasa, J / Suárez Armas, R / Suárez Valentín, M P / Sánchez García, F

Revista de neurologia

2004 Volume 38, Issue 7, Page(s) 615–618

Abstract: 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: ...

Title translation	Gender has a strong modulating effect on the risk of Alzheimer's disease conferred by the apolipoprotein E gene in the population of the Canary Islands, Spain.
Abstract	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.
MeSH term(s)	Age of Onset ; Aged ; Alleles ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Apolipoprotein E4 ; Apolipoproteins E/genetics ; Atlantic Islands/epidemiology ; Exons/genetics ; Female ; Gene Dosage ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Promoter Regions, Genetic/genetics ; Protein Isoforms/genetics ; Risk ; Sex Factors ; Spain/epidemiology
Chemical Substances	Apolipoprotein E4 ; Apolipoproteins E ; Protein Isoforms
Language	Spanish
Publishing date	2004-04
Publishing country	Spain
Document type	English Abstract ; Journal Article
ZDB-ID	1468278-3
ISSN	1576-6578 ; 0210-0010
ISSN (online)	1576-6578
ISSN	0210-0010
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Esclerosis múltiple familiar en Canarias.

Amela-Peris, R / Aladro, Y / Conde-Sendín, M A / Alemany-Rodríguez, M J / Muñoz-Fernández, C / Reyes-Yáñez, M P / Déniz-Naranjo, M C / Sánchez-García, F

Revista de neurologia

2004 Volume 39, Issue 10, Page(s) 911–914

Abstract: Introduction: Multiple sclerosis (MS) is an autoimmune disease that occurs in genetically predisposed individuals. Its inheritance is polygenic. Genetic epidemiology studies have shown an increased familial aggregation. AIM. To determine the prevalence ... ...

Title translation	Familial multiple sclerosis in Canary Islands.
Abstract	Introduction: Multiple sclerosis (MS) is an autoimmune disease that occurs in genetically predisposed individuals. Its inheritance is polygenic. Genetic epidemiology studies have shown an increased familial aggregation. AIM. To determine the prevalence of familial MS (fMS) in a series of patients from the Canary Islands. Patients and methods: From a cohort of 266 patients with defined MS, during a 6-year period, we investigated prospectively by personal interviews the presence of MS on first and second degree relatives. We analysed as well the presence of HLA DRB1 in affected families, and also clinical and demographic characteristics in fMS and compared them with sporadic MS (sMS). Results: fMS prevalence was 13.9% (27 non-related families with 50 affected individuals). The HLA DRB011501 allele were present in 51,8% of familial cases. We could not found either intrafamilial concordance in clinically affected regions and age of onset or clinical evolution. We have not found any phenotypic differences between familial and sMS. Conclusions:* The prevalence of fMS in our series is comparable to that in other Mediterranean populations. Our results do not support that fMS was a different clinical entity of sMS and intrafamilial concordance in its clinical expression.
MeSH term(s)	Adolescent ; Adult ; Atlantic Islands/epidemiology ; Child ; Cohort Studies ; Female ; HLA-DR Antigens/genetics ; HLA-DRB1 Chains ; Humans ; Male ; Middle Aged ; Multiple Sclerosis/classification ; Multiple Sclerosis/diagnosis ; Multiple Sclerosis/epidemiology ; Multiple Sclerosis/genetics
Chemical Substances	HLA-DR Antigens ; HLA-DRB1 Chains ; HLA-DRB1*15:01 antigen
Language	Spanish
Publishing date	2004-11
Publishing country	Spain
Document type	English Abstract ; Journal Article
ZDB-ID	1468278-3
ISSN	1576-6578 ; 0210-0010
ISSN (online)	1576-6578
ISSN	0210-0010
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Assessment of the DQ heterodimer test in the diagnosis of celiac disease in the Canary Islands (Spain).

Peña-Quintana, L / Torres-Galván, M J / Déniz-Naranjo, M C / Ortigosa-Castillo, L / Ramos-Varela, J C / Calvo-Hernández, F / Fiuza-Pérez, M D / Rodríguez-Gallego, J C / Sánchez-García, F

Journal of pediatric gastroenterology and nutrition

2003 Volume 37, Issue 5, Page(s) 604–608

Abstract: Background: Celiac disease is a multifactorial disorder of the proximal small intestine associated with a permanent intolerance to gluten. The HLA-DQ(alpha1*0501, beta1*02) heterodimer is strongly associated with this disease.: Materials and methods: ...

Abstract	Background: Celiac disease is a multifactorial disorder of the proximal small intestine associated with a permanent intolerance to gluten. The HLA-DQ(alpha10501, beta102) heterodimer is strongly associated with this disease. Materials and methods: The authors studied a sample of 354 unrelated Caucasoid individuals: 118 patients with celiac disease and 236 control subjects. All patients and controls subjects were born in Gran Canaria (Canary Islands) at least two generations ago. The authors typed the HLA-DQA1 and DQB1 genes by DNA methods. The positive and negative predictive values of the test were studied. Results: The mean age at diagnosis was 25.4 months, with a statistically significant proportion of females (64.4%, P < 0.002). For DQB1 gene, the susceptibility allele found was DQB102 (relative risk [RR] = 7.60, confidence interval [CI]: 5.35-10.78), whereas for the DQA1 gene, the susceptibility alleles found were DQA10501 (RR = 2.99, CI: 2.16-4.14) and DQA10201 (RR = 1.88, CI: 1.25-2.82). The presence of the DQ(alpha10501, beta102) heterodimer was strongly associated with the disease (92.4% in the patients group vs. 21.6% in control subjects). HLA-DQ8 heterodimer was absent in the authors' patients. DQB102 homozygous subjects presented a higher relative risk for celiac disease. There was no correlation of DQB102 dosage with age at onset below 12 years of age or with gender distribution. Sensitivity, specificity, and the positive and negative predictive values of the test were 92.4%, 78.4%, 68.1%, and 95.4%, respectively. Conclusions:* The presence of the DQ2 (DQA10501/DQB102) heterodimer is strongly associated with celiac disease in the population studied by the authors. The value of this test derives from its ability to exclude disease when a negative result occurs.
MeSH term(s)	Alleles ; Celiac Disease/diagnosis ; Celiac Disease/genetics ; Child ; Child, Preschool ; Dimerization ; Female ; Gene Dosage ; Genetic Predisposition to Disease ; Genotype ; HLA-DQ Antigens/genetics ; HLA-DQ alpha-Chains ; HLA-DQ beta-Chains ; Humans ; Infant ; Male ; Sensitivity and Specificity ; Spain
Chemical Substances	HLA-DQ Antigens ; HLA-DQ alpha-Chains ; HLA-DQ beta-Chains ; HLA-DQA1 antigen ; HLA-DQB1 antigen
Language	English
Publishing date	2003-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	603201-1
ISSN	1536-4801 ; 0277-2116
ISSN (online)	1536-4801
ISSN	0277-2116
DOI	10.1097/00005176-200311000-00019
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Article ; Online: Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

Lambert, J C / Ibrahim-Verbaas, C A / Harold, D / Naj, A C / Sims, R / Bellenguez, C / DeStafano, A L / Bis, J C / Beecham, G W / Grenier-Boley, B / Russo, G / Thorton-Wells, T A / Jones, N / Smith, A V / Chouraki, V / Thomas, C / Ikram, M A / Zelenika, D / Vardarajan, B N /

Kamatani, Y / Lin, C F / Gerrish, A / Schmidt, H / Kunkle, B / Dunstan, M L / Ruiz, A / Bihoreau, M T / Choi, S H / Reitz, C / Pasquier, F / Cruchaga, C / Craig, D / Amin, N / Berr, C / Lopez, O L / De Jager, P L / Deramecourt, V / Johnston, J A / Evans, D / Lovestone, S / Letenneur, L / Morón, F J / Rubinsztein, D C / Eiriksdottir, G / Sleegers, K / Goate, A M / Fiévet, N / Huentelman, M W / Gill, M / Brown, K / Kamboh, M I / Keller, L / Barberger-Gateau, P / McGuiness, B / Larson, E B / Green, R / Myers, A J / Dufouil, C / Todd, S / Wallon, D / Love, S / Rogaeva, E / Gallacher, J / St George-Hyslop, P / Clarimon, J / Lleo, A / Bayer, A / Tsuang, D W / Yu, L / Tsolaki, M / Bossù, P / Spalletta, G / Proitsi, P / Collinge, J / Sorbi, S / Sanchez-Garcia, F / Fox, N C / Hardy, J / Deniz Naranjo, M C / Bosco, P / Clarke, R / Brayne, C / Galimberti, D / Mancuso, M / Matthews, F / Moebus, S / Mecocci, P / Del Zompo, M / Maier, W / Hampel, H / Pilotto, A / Bullido, M / Panza, F / Caffarra, P / Nacmias, B / Gilbert, J R / Mayhaus, M / Lannefelt, L / Hakonarson, H / Pichler, S / Carrasquillo, M M / Ingelsson, M / Beekly, D / Alvarez, V / Zou, F / Valladares, O / Younkin, S G / Coto, E / Hamilton-Nelson, K L / Gu, W / Razquin, C / Pastor, P / Mateo, I / Owen, M J / Faber, K M / Jonsson, P V / Combarros, O / O'Donovan, M C / Cantwell, L B / Soininen, H / Blacker, D / Mead, S / Mosley, T H / Bennett, D A / Harris, T B / Fratiglioni, L / Holmes, C / de Bruijn, R F / Passmore, P / Montine, T J / Bettens, K / Rotter, J I / Brice, A / Morgan, K / Foroud, T M / Kukull, W A / Hannequin, D / Powell, J F / Nalls, M A / Ritchie, K / Lunetta, K L / Kauwe, J S / Boerwinkle, E / Riemenschneider, M / Boada, M / Hiltuenen, M / Martin, E R / Schmidt, R / Rujescu, D / Wang, L S / Dartigues, J F / Mayeux, R / Tzourio, C / Hofman, A / Nöthen, M M / Graff, C / Psaty, B M / Jones, L / Haines, J L / Holmans, P A / Lathrop, M / Pericak-Vance, M A / Launer, L J / Farrer, L A / van Duijn, C M / Van Broeckhoven, C / Moskvina, V / Seshadri, S / Williams, J / Schellenberg, G D / Amouyel, P

Nature genetics

2013 Volume 45, Issue 12, Page(s) 1452–1458

Abstract: Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide ... ...

Abstract	Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,154 controls. In stage 2, 11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer's disease cases and 11,312 controls. In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10(-8)) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.
MeSH term(s)	Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Case-Control Studies ; Cohort Studies ; Female ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study/statistics & numerical data ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide
Language	English
Publishing date	2013-10-27
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng.2802
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Article ; Online: Cytokine IL-1 beta but not IL-1 alpha promoter polymorphism is associated with Alzheimer disease in a population from the Canary Islands, Spain.

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Article: Enfermedades autoinmunes y esclerosis múltiple.

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Article: Fuerte modulacion de genero sobre el riesgo conferido por el gen de la apolipoproteina E para la enfermedad de Alzheimer en la poblacion de las Islas Canarias, España.

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Article: Esclerosis múltiple familiar en Canarias.

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Article: Assessment of the DQ heterodimer test in the diagnosis of celiac disease in the Canary Islands (Spain).

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Article ; Online: Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

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