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Parkinson Disease: HELP
Articles by Victoria Alvarez
Based on 14 articles published since 2010
(Why 14 articles?)
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Between 2010 and 2020, Victoria Alvarez wrote the following 14 articles about Parkinson Disease.
 
+ Citations + Abstracts
1 Article The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. 2019

Bandres-Ciga, Sara / Ahmed, Sarah / Sabir, Marya S / Blauwendraat, Cornelis / Adarmes-Gómez, Astrid D / Bernal-Bernal, Inmaculada / Bonilla-Toribio, Marta / Buiza-Rueda, Dolores / Carrillo, Fátima / Carrión-Claro, Mario / Gómez-Garre, Pilar / Jesús, Silvia / Labrador-Espinosa, Miguel A / Macias, Daniel / Méndez-Del-Barrio, Carlota / Periñán-Tocino, Teresa / Tejera-Parrado, Cristina / Vargas-González, Laura / Diez-Fairen, Monica / Alvarez, Ignacio / Tartari, Juan Pablo / Buongiorno, Mariateresa / Aguilar, Miquel / Gorostidi, Ana / Bergareche, Jesús Alberto / Mondragon, Elisabet / Vinagre-Aragon, Ana / Croitoru, Ioana / Ruiz-Martínez, Javier / Dols-Icardo, Oriol / Kulisevsky, Jaime / Marín-Lahoz, Juan / Pagonabarraga, Javier / Pascual-Sedano, Berta / Ezquerra, Mario / Cámara, Ana / Compta, Yaroslau / Fernández, Manel / Fernández-Santiago, Rubén / Muñoz, Esteban / Tolosa, Eduard / Valldeoriola, Francesc / Gonzalez-Aramburu, Isabel / Sanchez Rodriguez, Antonio / Sierra, María / Menéndez-González, Manuel / Blazquez, Marta / Garcia, Ciara / Suarez-San Martin, Esther / García-Ruiz, Pedro / Martínez-Castrillo, Juan Carlos / Vela-Desojo, Lydia / Ruz, Clara / Barrero, Francisco Javier / Escamilla-Sevilla, Francisco / Mínguez-Castellanos, Adolfo / Cerdan, Debora / Tabernero, Cesar / Gomez Heredia, Maria Jose / Perez Errazquin, Francisco / Romero-Acebal, Manolo / Feliz, Cici / Lopez-Sendon, Jose Luis / Mata, Marina / Martínez Torres, Irene / Kim, Jonggeol Jeffrey / Dalgard, Clifton L / Anonymous1451065 / Brooks, Janet / Saez-Atienzar, Sara / Gibbs, J Raphael / Jorda, Rafael / Botia, Juan A / Bonet-Ponce, Luis / Morrison, Karen E / Clarke, Carl / Tan, Manuela / Morris, Huw / Edsall, Connor / Hernandez, Dena / Simon-Sanchez, Javier / Nalls, Mike A / Scholz, Sonja W / Jimenez-Escrig, Adriano / Duarte, Jacinto / Vives, Francisco / Duran, Raquel / Hoenicka, Janet / Alvarez, Victoria / Infante, Jon / Marti, Maria José / Clarimón, Jordi / López de Munain, Adolfo / Pastor, Pau / Mir, Pablo / Singleton, Andrew / Anonymous1461065. ·Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. · Instituto de Investigación Biosanitaria de Granada (ibs.GRANADA), Granada, Spain. · Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. · Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Seville, Spain. · Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain. · Fundació Docència i Recerca Mútua de Terrassa and Movement Disorders Unit, Department of Neurology, University Hospital Mútua de Terrassa, Terrassa, Barcelona, Spain. · Neurodegenerative Disorders Area, Biodonostia Health Research Institute, San Sebastián, Spain. · Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. · Plataforma de Genomica, Instituto de Investigacion Biodonostia, San Sebastián, Spain. · Unidad de Trastornos de Movimiento, Departamento de Neurologia, Hospital Universitario de Donostia, San Sebastián, Spain. · Genetics of Neurodegenerative Disorders Unit, IIB Sant Pau, and Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain. · Movement Disorders Unit, Neurology Department, Sant Pau Hospital, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain. · Lab. of Parkinson disease and Other Neurodegenerative Movement Disorders, IDIBAPS-Institut d'Investigacions Biomèdiques, Barcelona, Catalonia, Spain. · Unitat de Parkinson i Trastorns del Moviment. Servicio de Neurologia, Hospital Clínic de Barcelona and Institut de Neurociencies de la Universitat de Barcelona (Maria de Maetzu Center), Catalonia, Spain. · Servicio de Neurología, Hospital Universitario Marqués de Valdecilla (IDIVAL) and Universidad de Cantabria, Santander, Spain. · Servicio de Neurología, Hospital Universitario Central de Asturias, Asturias, Spain. · Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Asturias, Spain. · Departamento de Neurologia, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain. · Departamento de Neurologia, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain. · Servicio de Neurologia, Hospital Universitario Fundación Alcorcón, Madrid, Spain. · Centro de Investigacion Biomedica and Departamento de Fisiologia, Facultad de Medicina, Universidad de Granada, Granada, Spain. · Servicio de Neurología, Hospital Universitario San Cecilio, Granada, Universidad de Granada, Spain. · Servicio de Neurología, Hospital Universitario Virgen de las Nieves, Granada, Spain. · Servicio de Neurología, Hospital General de Segovia, Segovia, Spain. · Servicio de Neurología, Hospital Universitario Virgen de la Victoria, Malaga, Spain. · Departamento de Neurologia, Hospital Universitario Infanta Sofía, Madrid, Spain. · Departamento de Neurologia, Instituto de Investigación Sanitaria La Fe, Hospital Universitario y Politécnico La Fe, Valencia, Spain. · Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA. · The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA. · Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. · Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. · Departamento de Ingeniería de la Información y las Comunicaciones, Universidad de Murcia, Murcia, Spain. · Department of Molecular Neuroscience, UCL, Institute of Neurology, London, United Kingdom. · Department of Neurology, Faculty of Medicine, University of Southampton, Southampton, United Kingdom. · University of Birmingham, Birmingham, United Kingdom. · Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, United Kingdom. · Department of Clinical Neuroscience, University College London, London, United Kingdom. · Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany. · Data Tecnica International, Glen Echo, Maryland, USA. · Department of Neurology, Johns Hopkins Medical Center, Baltimore, Maryland, USA. · Laboratorio de Neurogenética y Medicina Molecular, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. · Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain. · Laboratorio de Genética, Hospital Universitario Central de Asturias, Asturias, Spain. · Departamento de Neurociencias. UPV-EHU, Servicio de Neurología, Hospital Universitario Donostia, San Sebastián, Spain. ·Mov Disord · Pubmed #31660654.

ABSTRACT: BACKGROUND: The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. OBJECTIVES: To perform the largest PD genome-wide association study restricted to a single country. METHODS: We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. RESULTS: We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. CONCLUSIONS: Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain. © 2019 International Parkinson and Movement Disorder Society.

2 Article MiRNA profile in the substantia nigra of Parkinson's disease and healthy subjects. 2014

Cardo, Lucía F / Coto, Eliecer / Ribacoba, René / Menéndez, Manuel / Moris, Germán / Suárez, Esther / Alvarez, Victoria. ·Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain. ·J Mol Neurosci · Pubmed #25284245.

ABSTRACT: The deregulation of several microRNAs (miRNAs) has been associated with neurodegenerative processes, including Parkinson's disease (PD). Our aim was to characterize the level of miRNAs in the substantia nigra (SN) of PD patients and healthy donors. This is an important issue to characterize new putative markers and therapeutic targets for PD. RNA was extracted from the SN of postmortem PD (n=8) and healthy (n=4) subjects, and the level of 733 human miRNAs was assayed with TaqMan low-density arrays (TLDAs). Overall, there was a miRNA downregulation in the SN of patients. The mean level of 11 miRNAs was significantly different (p<0.05) between patients and controls, with 10 downregulated among the patients. MiR-198, -135b, -485-5p, and -548d were the best candidates and were quantified with individual TaqMan assays in the 12 samples. MiR-135b showed the most significant difference between patients and healthy donors. The bioinformatic analysis suggested that this miRNA could bind to genes implicated in several neurodegenerative pathways.

3 Article The screening of the 3'UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's disease. 2014

Cardo, Lucía F / Coto, Eliecer / Ribacoba, René / Mata, Ignacio F / Moris, Germán / Menéndez, Manuel / Alvarez, Victoria. ·Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain. · 1] Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain [2] Department of Medicine, University of Oviedo, Oviedo, Spain. · Neurología, Hospitales Universitario Central Asturias and Álvarez Buylla-Mieres, Asturias, Spain. · 1] Geriatric Research, Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA, USA [2] Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA. ·J Hum Genet · Pubmed #24758914.

ABSTRACT: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) are the most common genetic determinants of familial and sporadic Parkinson's disease (PD). Most of the mutational screenings analyzed the exon-coding sequence. Our aim was to determine whether LRRK2 3' untranslated region (UTR) variants were associated with the risk of developing PD in a large cohort of patients (n=743) and controls (n=523) from Spain. We identified a total of 12 3'UTR variants (two new). Single-nucleotide polymorphism (SNP) rs66737902 C allele was overrepresented in patients (P=0.005; odds ratio=1.47). This SNP was in linkage disequilibrium with the p.R1441G mutation, but the association remained significant among mutation-negative cases. We found a significant lower level of the LRRK2 transcript in the Substantia nigra (SN) of PD postmortem donors (n=9) who were rs66737902 C carriers (P=0.01). This SNP was predicted to affect a binding site for miR-138-2-3p. We showed that this microRNA was expressed in all the SN samples. In conclusion, we found a significant association between SNP rs66737902 and the risk of developing PD. This effect on PD risk could be explained by differences in LRRK2 transcript levels between the two alleles.

4 Article Alpha-synuclein transcript isoforms in three different brain regions from Parkinson's disease and healthy subjects in relation to the SNCA rs356165/rs11931074 polymorphisms. 2014

Cardo, Lucía F / Coto, Eliecer / de Mena, Lorena / Ribacoba, René / Mata, Ignacio F / Menéndez, Manuel / Moris, Germán / Alvarez, Victoria. ·Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain. · Neurología, Hospital Universitario Central Asturias and Álvarez Buylla-Mieres, Asturias, Spain. · Geriatric Research, Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA, USA; Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA. · Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain. Electronic address: victoria.alvarez@sespa.princast.es. ·Neurosci Lett · Pubmed #24418406.

ABSTRACT: Mutations in the alpha-synuclein (SNCA) gene cause autosomal dominant Parkinson's disease (PD). Common SNCA polymorphisms have been associated with the risk of developing PD. Abnormal expression and post-translational modification of SNCA has been found in PD-brains. In addition to a full length transcript (SNCA-140) there are three short isoforms (SNCA-98, -112, and -126) that could be prone to aggregation. The association between SNCA polymorphisms and PD could be explained through an increased expression of these alternative transcripts. Our aim was to measure the different SNCA transcripts in the substantia nigra (SN), cerebellum (CB), and occipital cortex (OC) from PD-patients (n=9) and healthy subjects (n=6). In addition, we determined whether two SNCA polymorphisms (SNPs rs356165 and rs11931074) were related to differences in transcript isoform expression. PD brain tissues showed higher levels of the three short transcripts in the SN, but only SNCA-112 and SNCA-98 were significantly increased in the CB of patients vs. controls (p=0.02, p=0.03). The genotyping of a large cohort of PD-patients and controls showed that haplotype rs356165-A+rs11931074-G had a protective effect (OR=0.71; CI=0.59-0.83), while the G-T haplotype increased the risk for PD (OR=1.44; CI=1.06-1.96). We did not find significant differences for the SNCA levels between the haplotypes. In conclusion, we found statistically significant higher levels of the SNCA-112 and SNCA-98 transcripts in the CB of PD brains, and a trend toward higher levels of the short transcript isoforms in the SN of PD brains.

5 Article Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease. 2013

de Mena, Lorena / Samaranch, L Luís / Coto, Eliecer / Cardo, Lucía F / Ribacoba, René / Lorenzo-Betancor, Oswaldo / Pastor, Pau / Wang, Li / Irigoyen, Jaione / Mata, Ignacio F / Díaz, Marta / Moris, Germán / Menéndez, Manuel / Corao, Ana I / Lorenzo, Elena / Alvarez, Victoria. ·Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain. ·J Mol Neurosci · Pubmed #23275044.

ABSTRACT: PRKN mutations have been linked to Parkinson's disease (PD). Most of the mutational screenings have focused on the coding exons. The 3' untranslated region (UTR) could also harbor functionally relevant nucleotide changes. We performed a mutational screening of PRKN in a cohort of early-onset PD patients (n = 235) from Spain. We found 16 mutations (five new): 16 patients (7 %) carried two mutations and only one mutation was found in 28 (12 %). Patients with two mutations had significantly lower mean age (30 ± 9 years) compared to patients with one (40 ± 7) or no mutation (42 ± 7). We found a total of 15 nucleotide variants (three new) in the 3' UTR region. The frequency of carriers of the rare rs62637702 G allele (*94A/G) was significantly lower among the patients compared to healthy controls (n = 418) (0.03 vs. 0.004; p < 0.001), suggesting a protective role for this allele. In order to investigate the basal effect of this variant, we performed luciferase assays. No different basal activity was observed between the two alleles. In conclusion, the rs62637702 polymorphism was associated with PD. This could be a surrogate marker for disease risk, in linkage disequilibrium with other non-identified functional variant.

6 Article Common variation in the LRRK2 gene is a risk factor for Parkinson's disease. 2012

Mata, Ignacio F / Checkoway, Harvey / Hutter, Carolyn M / Samii, Ali / Roberts, John W / Kim, Hojoong M / Agarwal, Pinky / Alvarez, Victoria / Ribacoba, Renee / Pastor, Pau / Lorenzo-Betancor, Oswaldo / Infante, Jon / Sierra, María / Gómez-Garre, Pilar / Mir, Pablo / Ritz, Beate / Rhodes, Shannon L / Colcher, Amy / Van Deerlin, Vivianna / Chung, Kathryn A / Quinn, Joseph F / Yearout, Dora / Martinez, Erica / Farin, Federico M / Wan, Jia Y / Edwards, Karen L / Zabetian, Cyrus P. ·Veterans Affairs Puget Sound Health Care System, Seattle, Washington 98108, USA. nachofm@u.washington.edu ·Mov Disord · Pubmed #23115130.

ABSTRACT: BACKGROUND: Common variants in the LRRK2 gene influence the risk of Parkinson's disease (PD) in Asians, but whether the same is true in European-derived populations is less clear. METHODS: We genotyped 66 LRRK2 tagging single-nucleotide polymorphisms (SNPs) in 575 PD patients and 689 controls from the northwestern United States (tier 1). PD-associated SNPs (P < .05) were then genotyped in an independent sample of 3617 cases and 2512 controls from the United States and Spain (tier 2). Logistic regression was used to model additive SNP genotype effects adjusted for age and sex among white individuals. RESULTS: Two regions showed independent association with PD in tier 1, and SNPs in both regions were successfully replicated in tier 2 (rs10878226, combined odds ratio [OR], 1.20; 95% confidence interval [CI], 1.08-1.33; P = 6.3 × 10(-4); rs11176013, OR, 0.89; CI, 0.83-0.95; P = 4.6 × 10(-4)). CONCLUSIONS: Our data suggest that common variation within LRRK2 conveys susceptibility for PD in individuals of European ancestry.

7 Article A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease. 2012

Cardo, Lucía F / Coto, Eliecer / de Mena, Lorena / Ribacoba, René / Lorenzo-Betancor, Oswaldo / Pastor, Pau / Samaranch, Lluis / Mata, Ignacio F / Díaz, Marta / Moris, Germán / Menéndez, Manuel / Corao, Ana I / Alvarez, Victoria. ·Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain. ·J Mol Neurosci · Pubmed #22076805.

ABSTRACT: Alpha-synuclein gene (SNCA) polymorphisms have been associated with the common sporadic form of Parkinson's disease (PD). We searched for DNA variants at the SNCA 3' UTR through single strand conformation analysis and direct sequencing in a cohort of Spanish PD patients and controls. We have genotyped the rs356165 SNCA 3' UTR polymorphism in a total of 1,135 PD patients and 772 healthy controls from two Spanish cohorts (Asturias and Navarre). We identified six SNCA 3' UTR variants. Single nucleotide polymorphism (SNP) rs356165 was significantly associated with PD risk in the Spanish cohort (p = 0.0001; odd ratio = 1.37, 95%CI = 1.19-1.58). This SNP was also significantly associated with early age at onset of PD. Our work highlights rs356165 as an important determinant of the risk of developing PD and early age at onset and encourages future research to identify a functional effect on SNCA expression.

8 Article Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America. 2011

Mata, Ignacio F / Wilhoite, Greggory J / Yearout, Dora / Bacon, Justin A / Cornejo-Olivas, Mario / Mazzetti, Pilar / Marca, Victoria / Ortega, Olimpio / Acosta, Oscar / Cosentino, Carlos / Torres, Luis / Medina, Angel C / Perez-Pastene, Carolina / Díaz-Grez, Fernando / Vilariño-Güell, Carles / Venegas, Pablo / Miranda, Marcelo / Trujillo-Godoy, Osvaldo / Layson, Luis / Avello, Rodrigo / Dieguez, Elena / Raggio, Victor / Micheli, Federico / Perandones, Claudia / Alvarez, Victoria / Segura-Aguilar, Juan / Farrer, Matthew J / Zabetian, Cyrus P / Ross, Owen A. ·Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA. nachofm@u.washington.edu ·Parkinsonism Relat Disord · Pubmed #21632271.

ABSTRACT: Mutations in the LRRK2 gene are the most common genetic cause of Parkinson's disease, with frequencies displaying a high degree of population-specificity. Although more than 100 coding substitutions have been identified, only seven have been proven to be highly penetrant pathogenic mutations. Studies however are lacking in non-white populations. Recently, Lrrk2 p.Q1111H (rs78365431) was identified in two affected Hispanic brothers and absent in 386 non-Hispanic white healthy controls. We therefore screened this variant in 1460 individuals (1150 PD patients and 310 healthy controls) from 4 Latin American countries (Peru, Chile, Uruguay and Argentina). In our case-control series from Peru and Chile we observed an increased frequency of Lrrk2 p.Q1111H in patients (7.9%) compared to controls (5.4%) although the difference did not reach significance (OR 1.38; p = 0.10). In addition, the frequency of Lrrk2 p.Q1111H varied greatly between populations and further screening in a set of pure Amerindian and pure Spanish controls suggested that this variant likely originated in an Amerindian population. Further studies in other Latin American populations are warranted to assess its role as a risk factor for Parkinson's disease. Screening in Parkinson's disease patients from under-represented populations will increase our understanding of the role of LRRK2 variants in disease risk worldwide.

9 Article Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease. 2011

Mata, Ignacio F / Yearout, Dora / Alvarez, Victoria / Coto, Eliecer / de Mena, Lorena / Ribacoba, Renee / Lorenzo-Betancor, Oswaldo / Samaranch, Lluis / Pastor, Pau / Cervantes, Sebastian / Infante, Jon / Garcia-Gorostiaga, Ines / Sierra, Maria / Combarros, Onofre / Snapinn, Katherine W / Edwards, Karen L / Zabetian, Cyrus P. ·Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA. ·Mov Disord · Pubmed #21425343.

ABSTRACT: Recent genome-wide association studies of Parkinson's disease have nominated 3 new susceptibility loci (PARK16-18) and confirmed 2 known risk genes (MAPT and SNCA) in populations of European ancestry. We sought to replicate these findings. We genotyped single-nucleotide polymorphisms in each of these genes/loci in 1445 Parkinson's disease patients and 1161 controls from northern Spain. Logistic regression was used to test for association between genotype and Parkinson's disease under an additive model, adjusting for sex, age, and site. We also performed analyses stratified by age at onset. Single-nucleotide polymorphisms in MAPT (rs1800547; P = 3.1 × 10(-4) ) and SNCA (rs356219; P = 5.5 × 10(-4) ) were significantly associated with Parkinson's disease. However, none of the markers in PARK16-18 associated with Parkinson's disease in the overall sample, or in any age stratum, with P values ranging from .09 to .88. Although our data further validate MAPT and SNCA as Parkinson's disease susceptibility genes, we failed to replicate PARK16, PARK17, and PARK18. Potential reasons for the discordance between our study and previous genome-wide association studies include effects of population structure, power, and population-specific environmental interactions. Our findings suggest that additional studies of PARK16-18 are necessary to establish the role of these loci in modifying risk for Parkinson's disease in European-derived populations. © 2011 Movement Disorder Society.

10 Article FGF20 rs12720208 SNP and microRNA-433 variation: no association with Parkinson's disease in Spanish patients. 2010

de Mena, Lorena / Cardo, Lucía F / Coto, Eliecer / Miar, Ana / Díaz, Marta / Corao, Ana I / Alonso, Belén / Ribacoba, René / Salvador, Carlos / Menéndez, Manuel / Morís, Germán / Alvarez, Victoria. ·Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Spain. ·Neurosci Lett · Pubmed #20471450.

ABSTRACT: DNA variation at the FGF20 gene has been associated with Parkinson's disease (PD). In particular, SNP rs12720208 in the 3' untranslated region (3' UTR) was linked to PD-risk through a mechanism that would implicate a differential binding to microRNA-433 (miR-433). The reduction of the affinity of miR-433 to the 3' UTR would result in increased FGF20 expression and upregulation of alpha-synuclein, which could in turn promote dopaminergic neurons degeneration. We genotyped the rs12720208 SNP in a total of 512 PD patients and 258 healthy controls from Spain, and searched for miR-433 variants in the patients. We did not find significant differences in allele and genotype frequencies between patients and controls. None of the patients had miR-433 variants. In conclusion, our work did not confirm the association between rs12720208 and PD, or an effect of miR-433 variants on this disease.

11 Article Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease. 2010

de Mena, Lorena / Coto, Eliecer / Cardo, Lucía F / Díaz, Marta / Blázquez, Marta / Ribacoba, René / Salvador, Carlos / Pastor, Pau / Samaranch, Lluis / Moris, Germán / Menéndez, Manuel / Corao, Ana I / Alvarez, Victoria. ·Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Spain. ·Am J Med Genet B Neuropsychiatr Genet · Pubmed #20468068.

ABSTRACT: MicroRNAs are small RNA sequences that negatively regulate gene expression by binding to the 3' untranslated regions of mRNAs. MiR-133b has been implicated in Parkinson's disease (PD) by a mechanism that involves the regulation of the transcription factor PITX3. The variation in these genes could contribute to the risk of developing PD. We searched for DNA variants in miR-133 and PITX3 genes in PD patients and healthy controls from Spain. We found common DNA variants in the three miR-133 genes. Genotyping of a first set of patients (n = 777) and controls (n = 650) showed a higher frequency of homozygous for a miR-133b variant (-90 del A) in PD-patients (6/575; 1%) than in healthy controls (0/650) (P = 0.03). However, this association was not confirmed in a second set of patients (1/250; 0.4%) and controls (2/210; 1%). No common PITX3 variants were associated with PD, although a rare missense change (G32S) was found in only one patient and none of the controls. In conclusion, we report the variation in genes of a pathway that has been involved in dopaminergic neuron differentiation and survival. Our work suggests that miR-133 and PITX3 gene variants did not contribute to the risk for PD.

12 Minor No differential DNA methylation of PARK2 in brain of Parkinson's disease patients and healthy controls. 2013

De Mena, Lorena / Cardo, Lucía F / Coto, Eliecer / Alvarez, Victoria / Coto, Eliecer. ·Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain. ·Mov Disord · Pubmed #23868535.

ABSTRACT: -- No abstract --

13 Minor Profile of microRNAs in the plasma of Parkinson's disease patients and healthy controls. 2013

Cardo, Lucía F / Coto, Eliecer / de Mena, Lorena / Ribacoba, Renée / Moris, Germán / Menéndez, Manuel / Alvarez, Victoria. · ·J Neurol · Pubmed #23543376.

ABSTRACT: -- No abstract --

14 Minor Novel Lrrk2-p.S1761R mutation is not a common cause of Parkinson's disease in Spain. 2013

Mata, Ignacio F / Alvarez, Victoria / Ribacoba, Renee / Infante, Jon / Sierra, María / Gómez-Garre, Pilar / Mir, Pablo / Waldherr, Sarah / Yearout, Dora / Zabetian, Cyrus P. · ·Mov Disord · Pubmed #23389884.

ABSTRACT: -- No abstract --