49 research outputs found
Acuatic Insects at Southeast of Wetlands in the Tres Palos Lagoon, Acapulco, Guerrero, Mexico
Aquatic environment alteration is reflected in the biodiversity of the ecosystem, aquatic insects are used to evaluate the anthropogenic impact. In the dry season (May-June) the samples are taken in 13 collection sites in the area of wetlands. Low diversity (22 genera) is presented, the most abundant and widely distributed species corresponded to Notonecta undulata and Hetaerina americana (Hemiptera and Odonata, respectively). The Tipula sp (Diptera) recorded partial distribution and local distribution Potanamus rofous (Ephemeroptera). The 91 BMWP index corresponds to a moderate pollution degree with eutrophy.
Single versus tandem autologous stem-cell transplantation in patients with newly diagnosed multiple myeloma and high-risk cytogenetics. A retrospective, open-label study of the PETHEMA/Spanish Myeloma Group (GEM)
Tandem ASCT has been suggested as a valid approach to improve the prognosis of patients with MM and HR cytogenetic. In this observational, retrospective study, 213 patients with newly diagnosed MM and HR cytogenetic in 35 hospitals from the Spanish Myeloma Group underwent single or tandem ASCT between January 2015 and December 2019 after induction with VTD/VRD. HR cytogenetic was defined as having ≥1 of the following: del17p, t(4;14), t(14;16) or gain 1q21. More patients in the tandem group had R-ISS 3 and >1 cytogenetic abnormality at diagnosis. With a median follow-up of 31 months (range, 10–82), PFS after single ASCT was 41 months versus 48 months with tandem ASCT (p = 0.33). PFS in patients with del17p undergoing single ASCT was 41 months, while 52% of patients undergoing tandem ASCT were alive and disease free at 48 months. In conclusion, tandem ASCT partly overcomes the bad prognosis of HR cytogenetic
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families
[Aims] Recessive variants in CAPN3 gene are the cause of the commonest form of autosomal recessive limb girdle muscle dystrophy. However, two distinct in-frame deletions in CAPN3 (NM_000070.3:c.643_663del21 and c.598_621del15) and more recently, Gly445Arg and Arg572Pro substitutions have been linked to autosomal dominant (AD) forms of calpainopathy. We report 21 affected individuals from seven unrelated families presenting with an autosomal dominant form of muscular dystrophy associated with five different heterozygous missense variants in CAPN.[Methods] We have used massively parallel gene sequencing (MPS) to determine the genetic basis of a dominant form of limb girdle muscular dystrophy in affected individuals from seven unrelated families.[Results] The c.700G> A, [p.(Gly234Arg)], c.1327T> C [p.(Ser443Pro], c.1333G> A [p.(Gly445Arg)], c.1661A> C [p.(Tyr554Ser)] and c.1706T> C [p.(Phe569Ser)] CAPN3 variants were identified. Affected individuals presented in young adulthood with progressive proximal and axial weakness, waddling walking and scapular winging or with isolated hyperCKaemia. Muscle imaging showed fatty replacement of paraspinal muscles, variable degrees of involvement of the gluteal muscles, and the posterior compartment of the thigh and minor changes at the mid-leg level. Muscle biopsies revealed mild myopathic changes. Western blot analysis revealed a clear reduction in calpain 3 in skeletal muscle relative to controls. Protein modelling of these variants on the predicted structure of calpain 3 revealed that all variants are located in proximity to the calmodulin-binding site and are predicted to interfere with proteolytic activation.[Conclusions] We expand the genotypic spectrum of CAPN3-associated muscular dystrophy due to autosomal dominant missense variants.This study was funded in part by Instituto de Salud Carlos III through the project PI14/00738 to M. O. (co-funded by European Regional Development Fund. ERDF, a way to build Europe). We thank CERCA Programme / Generalitat de Catalunya for institutional support NGL (APP1117510) and GR (APP1122952) are supported by the Australian National Health and Medical Research Council (NHMRC). This work is also funded by an NHMRC Project Grant (APP1080587).Peer reviewe
Multicentre, randomised, single-blind, parallel group trial to compare the effectiveness of a Holter for Parkinson's symptoms against other clinical monitoring methods: study protocol
Introduction
In recent years, multiple studies have aimed to develop and validate portable technological devices capable of monitoring the motor complications of Parkinson's disease patients (Parkinson's Holter). The effectiveness of these monitoring devices for improving clinical control is not known.
Methods and analysis
This is a single-blind, cluster-randomised controlled clinical trial. Neurologists from Spanish health centres will be randomly assigned to one of three study arms (1:1:1): (a) therapeutic adjustment using information from a Parkinson?s Holter that will be worn by their patients for 7 days, (b) therapeutic adjustment using information from a diary of motor fluctuations that will be completed by their patients for 7 days and (c) therapeutic adjustment using clinical information collected during consultation. It is expected that 162 consecutive patients will be included over a period of 6 months.
The primary outcome is the efficiency of the Parkinson?s Holter compared with traditional clinical practice in terms of Off time reduction with respect to the baseline (recorded through a diary of motor fluctuations, which will be completed by all patients). As secondary outcomes, changes in variables related to other motor complications (dyskinesia and freezing of gait), quality of life, autonomy in activities of daily living, adherence to the monitoring system and number of doctor?patient contacts will be analysed. The noninferiority of the Parkinson's Holter against the diary of motor fluctuations in terms of Off time reduction will be studied as the exploratory objective.
Ethics and dissemination approval for this study has been obtained from the Hospital Universitari de Bellvitge Ethics Committee. The results of this study will inform the practical utility of the objective information provided by a Parkinson's Holter and, therefore, the convenience of adopting this technology in clinical practice and in future clinical trials. We expect public dissemination of the results in 2022.Funding This work is supported by AbbVie S.L.U, the Instituto de Salud Carlos III [DTS17/00195] and the European Fund for Regional Development, 'A way to make Europe'
Treatment with tocilizumab or corticosteroids for COVID-19 patients with hyperinflammatory state: a multicentre cohort study (SAM-COVID-19)
Objectives: The objective of this study was to estimate the association between tocilizumab or corticosteroids and the risk of intubation or death in patients with coronavirus disease 19 (COVID-19) with a hyperinflammatory state according to clinical and laboratory parameters.
Methods: A cohort study was performed in 60 Spanish hospitals including 778 patients with COVID-19 and clinical and laboratory data indicative of a hyperinflammatory state. Treatment was mainly with tocilizumab, an intermediate-high dose of corticosteroids (IHDC), a pulse dose of corticosteroids (PDC), combination therapy, or no treatment. Primary outcome was intubation or death; follow-up was 21 days. Propensity score-adjusted estimations using Cox regression (logistic regression if needed) were calculated. Propensity scores were used as confounders, matching variables and for the inverse probability of treatment weights (IPTWs).
Results: In all, 88, 117, 78 and 151 patients treated with tocilizumab, IHDC, PDC, and combination therapy, respectively, were compared with 344 untreated patients. The primary endpoint occurred in 10 (11.4%), 27 (23.1%), 12 (15.4%), 40 (25.6%) and 69 (21.1%), respectively. The IPTW-based hazard ratios (odds ratio for combination therapy) for the primary endpoint were 0.32 (95%CI 0.22-0.47; p < 0.001) for tocilizumab, 0.82 (0.71-1.30; p 0.82) for IHDC, 0.61 (0.43-0.86; p 0.006) for PDC, and 1.17 (0.86-1.58; p 0.30) for combination therapy. Other applications of the propensity score provided similar results, but were not significant for PDC. Tocilizumab was also associated with lower hazard of death alone in IPTW analysis (0.07; 0.02-0.17; p < 0.001).
Conclusions: Tocilizumab might be useful in COVID-19 patients with a hyperinflammatory state and should be prioritized for randomized trials in this situatio
I Jornada de Aulas Abiertas: Encuentro de Docentes de la Facultad de Ciencias Económicas
La Jornada de Aulas Abiertas quiere ser una oportunidad para que los docentes de la Facultad de Ciencias Económicas nos encontremos en un espacio de reflexión y revisión de nuestras prácticas, distendido, cálido y respetuoso, que nos permita compartir nuestras experiencias cotidianas en las aulas, tanto presenciales como virtuales. Es la posibilidad de conocernos, intercambiar, aprender y contagiarnos de las inquietudes y el entusiasmo que muchos docentes ponen en juego cotidianamente.
En el marco de propuestas de enseñanza, se analizaron recursos multimediales, materiales de estudio, aulas virtuales, redes sociales, aplicaciones web, juegos y actividades de evaluación y coevaluación originales; también se abordaron problemáticas y propuestas para favorecer vinculaciones con la práctica profesional. Estas fueron algunas de las cuestiones abordadas y compartidas en las presentaciones de nuestros colegas. Distintas propuestas, pero siempre con el propósito de favorecer las oportunidades de aprendizaje de nuestros estudiantes.
Esta publicación pretende ampliar el alcance de esta actividad. Es una invitación para que los y las docentes que participaron puedan revisar nuevamente aquellas actividades que les parecieron valiosas, o las que no pudieron presenciar. Y para aquellos/as que no tuvieron la posibilidad de estar presentes, puedan descubrir cuánto podemos hacer para que nuestros estudiantes aprendan más y mejor, y se animen a iniciar sus propios recorridos.
Esperamos repetir este evento para seguir aprendiendo de las iniciativas de los/las docentes de nuestra Facultad, poder hablar de lo que nos preocupa y nos enorgullece, en particular de las propuestas que desarrollamos en el aula para favorecer la comprensión, promover el entusiasmo, abordar temas complejos y errores frecuentes de nuestros estudiantes.
Desde el Área de Formación Docente y Producción Educativa queremos agradecer a las autoridades de nuestra Facultad por acompañarnos en este desafío y a los/las docentes que estuvieron presentes compartiendo sus experiencias.Fil: Sabulsky, Gabriela. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Margaría, Oscar A. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Iturralde, Ivan. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Domenech, Roberto. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Torrico, Julieta. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Estigarribia, Lucrecia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Gohlke, Guillermo. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Rosenfeld, Valeria. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Montenjano, Franco. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Atienza, Bárbara. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Becerra, Natalia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Alonso, Micaela. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Tomatis, Karina. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Saunders, Shirley. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: David, María Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Flores, Verónica Andrea. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Heckmann, Gerardo. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Vega, Juan José. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Trucchi, Carlos. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Ferro, Flavia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Díaz, Cecilia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Peretto, Claudia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Racagni, Josefina. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Guardiola, Mariana. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: López, Sonia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Beltrán, Natacha. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Russo, Paulo. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Sánchez, Pablo. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Rocha Vargas, Marcelo. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Flores, Norma. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Arévalo, Eliana. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Pacheco, Verónica. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Delmonte, Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Stanecka, Nancy. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Caminos, Ana Belén. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Ahumada, María Inés. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Caro, Norma Patricia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Bravino, Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Giménez, Siria Miriam. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Perona, Eugenia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Cuttica, Mariela. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: García, Gladys Susana. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Cohen, Natalia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Tapia, Sebastián. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Erazu, Damián. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Torres, César. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Casini, Rosanna Beatriz. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Rosales, Julio. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Infante, Roberto Adrián. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Ricci, María Beatriz. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Römer, Gabriela. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Goyeneche, Noel. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Marzo, Emanuel. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Olmos, Mariano. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Bottino, Cecilia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Cacciagiú, Victor. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Scidá, María Florencia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Guajardo Molina, Vanesa. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Batistella, Silvana del V. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Huanchicay, Silvia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Jones, Carola. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Cassutti, Marcela Beatriz. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Sánchez, Juan Nicolás. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Arónica, Sandra. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Ortega, Fernando. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Peretti, Florencia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Tagle, María Mercedes. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Asís, Gloria Susana. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Ortiz Figueroa, Ana María. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Giménez, Miriam Mónica. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Magnano, Cecilia. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Arias, Verónica. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Background Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease. Methods We did a meta-analysis of 17 datasets from Parkinson's disease GWAS available from European ancestry samples to nominate novel loci for disease risk. These datasets incorporated all available data. We then used these data to estimate heritable risk and develop predictive models of this heritability. We also used large gene expression and methylation resources to examine possible functional consequences as well as tissue, cell type, and biological pathway enrichments for the identified risk factors. Additionally, we examined shared genetic risk between Parkinson's disease and other phenotypes of interest via genetic correlations followed by Mendelian randomisation. Findings Between Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls. We identified 90 independent genome-wide significant risk signals across 78 genomic regions, including 38 novel independent risk signals in 37 loci. These 90 variants explained 16–36% of the heritable risk of Parkinson's disease depending on prevalence. Integrating methylation and expression data within a Mendelian randomisation framework identified putatively associated genes at 70 risk signals underlying GWAS loci for follow-up functional studies. Tissue-specific expression enrichment analyses suggested Parkinson's disease loci were heavily brain-enriched, with specific neuronal cell types being implicated from single cell data. We found significant genetic correlations with brain volumes (false discovery rate-adjusted p=0·0035 for intracranial volume, p=0·024 for putamen volume), smoking status (p=0·024), and educational attainment (p=0·038). Mendelian randomisation between cognitive performance and Parkinson's disease risk showed a robust association (p=8·00 × 10−7). Interpretation These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, to the best of our knowledge, by revealing many additional Parkinson's disease risk loci, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified. These associations derived from European ancestry datasets will need to be followed-up with more diverse data. Funding The National Institute on Aging at the National Institutes of Health (USA), The Michael J Fox Foundation, and The Parkinson's Foundation (see appendix for full list of funding sources)
Soy Niña
Este libro pretende contribuir al reencuentro de la educación con esas finalidades que verdaderamente importan a una niña o un niño: ser feliz, jugar, vivir juntos y (no) aprender. Para ello hemos puesto el arte, nuestras experiencias y el saber acumulado al servicio del disfrute, el cuestionamiento, el análisis crítico y la construcción común de un presente deseable. Un texto colaborativo coordinado por Ignacio Calderón Almendros y realizado por alumnado de Educación y Cambio Social en el Grado en Educación Infantil de la Universidad de Málaga
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Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets
Importance Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlying genes and mechanisms at these loci will be key to understanding the pathogenesis of PD.
Objective To investigate what genes and genomic processes underlie the risk of sporadic PD.
Design and Setting This genetic association study used the bioinformatic tools Coloc and transcriptome-wide association study (TWAS) to integrate PD case-control GWAS data published in 2017 with expression data (from Braineac, the Genotype-Tissue Expression [GTEx], and CommonMind) and methylation data (derived from UK Parkinson brain samples) to uncover putative gene expression and splicing mechanisms associated with PD GWAS signals. Candidate genes were further characterized using cell-type specificity, weighted gene coexpression networks, and weighted protein-protein interaction networks.
Main Outcomes and Measures It was hypothesized a priori that some genes underlying PD loci would alter PD risk through changes to expression, splicing, or methylation. Candidate genes are presented whose change in expression, splicing, or methylation are associated with risk of PD as well as the functional pathways and cell types in which these genes have an important role.
Results Gene-level analysis of expression revealed 5 genes (WDR6 [OMIM 606031], CD38 [OMIM 107270], GPNMB [OMIM 604368], RAB29 [OMIM 603949], and TMEM163 [OMIM 618978]) that replicated using both Coloc and TWAS analyses in both the GTEx and Braineac expression data sets. A further 6 genes (ZRANB3 [OMIM 615655], PCGF3 [OMIM 617543], NEK1 [OMIM 604588], NUPL2 [NCBI 11097], GALC [OMIM 606890], and CTSB [OMIM 116810]) showed evidence of disease-associated splicing effects. Cell-type specificity analysis revealed that gene expression was overall more prevalent in glial cell types compared with neurons. The weighted gene coexpression performed on the GTEx data set showed that NUPL2 is a key gene in 3 modules implicated in catabolic processes associated with protein ubiquitination and in the ubiquitin-dependent protein catabolic process in the nucleus accumbens, caudate, and putamen. TMEM163 and ZRANB3 were both important in modules in the frontal cortex and caudate, respectively, indicating regulation of signaling and cell communication. Protein interactor analysis and simulations using random networks demonstrated that the candidate genes interact significantly more with known mendelian PD and parkinsonism proteins than would be expected by chance.
Conclusions and Relevance Together, these results suggest that several candidate genes and pathways are associated with the findings observed in PD GWAS studies