32 research outputs found
Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study
Background
Chronic kidney disease progression has been linked to pro-inflammatory cytokines and markers of inflammation. These markers are also elevated in end-stage renal disease (ESRD), which constitutes a serious public health problem.
Objective
To investigate whether single nucleotide polymorphisms (SNPs) located in genes related to immune and inflammatory processes, could be associated with ESRD development.
Design and methods
A retrospective case-control study was carried out on 276 patients with ESRD and 288 control subjects. Forty-eight SNPs were genotyped via SNPlex platform. Logistic regression was used to assess the relationship between each sigle polymorphism and the development of ESRD.
Results
Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene (OR: 0.66 (95%CI=0.46-0.95); p=0.025; overdominant model), rs4586 in chemokine (C-C motif) ligand 2 (CCL2) gene (OR: 0.70 (95%CI=0.54-0.90); p=0.005; additive model), rs301640 located in an intergenic binding site for signal transducer and activator of transcription 4 (STAT4) (OR: 1.82 (95%CI=1.17-2.83); p=0.006; additive model) and rs7830 in the nitric oxide synthase 3 (NOS3) gene (OR: 1.31 (95%CI=1.01-1.71); p=0.043; additive model). After adjusting for multiple testing, results lost significance.
Conclusion
Our preliminary data suggest that four genetic polymorphisms located in genes related to inflammation and immune processes could help to predict the risk of developing ESRD.This work was supported by grants from Instituto de Salud Carlos III (Ref: PI08/0738 and PI11/00245) to SR and Junta de Castilla y Leon (Ref: GRS 234/A/08) to ET. MAJS is supported by a grant from Instituto de Salud Carlos III (CM10/00105).Jimenez-Sousa, MA.; López, E.; Fernandez-Rodriguez, A.; Tamayo, E.; Fernández-Navarro, P.; Segura Roda, L.; Heredia, M.... (2012). Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study. BMC Medical Genetics. 13(58):1-6. https://doi.org/10.1186/1471-2350-13-58S161358Otero A, de Francisco A, Gayoso P, Garcia F: Prevalence of chronic renal disease in Spain: results of the EPIRCE study. Nefrologia. 2010, 30 (1): 78-86.Kottgen A: Genome-wide association studies in nephrology research. 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Theorical analysis to explain the slow acceptance of the recent residential vertical trends in San José, Costa Rica
O artigo tem como objetivo avaliar o surgimento e evolução do mercado imobiliário costarriquenho com o intuito de desvendar o contexto do forte vínculo com a terra e, por conseguinte, propor uma explicação ao lento aceite das novas tendências residenciais verticais. A metodologia consiste em pesquisas de campo anuais entre 2011 e 2017, revisão de fotografias e uma revisão bibliográfica de autores marxistas costarriquenhos, brasileiros e internacionais, com a intenção de formular uma discussão teórica para mostrar como as mudanças nos modos de produção e na economia local fortaleceram a relação entre a população e sua terra. Utiliza-se um amplo recorte temporal desde o período colonial até a atualidade com o intuito de analisar como, ao longo da evolução do mercado imobiliário, as diferentes formas de moradia permitiram manter esse forte arraigo pela terra. Posteriormente aborda-se o tema da recente verticalização residencial de luxo e se realiza uma análise semântica dessa, com a intenção de entender a reação da população frente a uma proposta residencial sem acesso a jardim ou espaço ao ar livre. Conclui-se que, embora possam existir outros fatores, o forte arraigo pela terra pode ser considerado um dos motivos principais do lento aceite dos novos empreendimentos verticais na Costa Rica.This article aims to evaluate the emergence and evolution of the Costa Rican real estate market in order to
unravel the context of the strong bond with the land and hence the slow acceptance of new residential vertical
trends. The methodology consists of annual fieldworks between 2011 and 2017, a revision of some local antique
urban photographs and a bibliographical review of Costa Rican, Brazilian and international Marxist authors,
with the purpose of formulating a theoretical discussion to show how changes in the modes of production and
the local economy strengthened the relationship between people and their land. A broad time frame is analyzed,
from the colonial period until nowadays, in order to examine, how across the course of the evolution of the
real estate market, the different forms of housing have adapted to preserve the strong attachment that the
population has had for their land. Afterward, the issue of the recent emergence of luxury vertical buildings is addressed and a semantic analysis is done to examine the population´s response to the new residential proposal
without access to open space. It is concluded the strong attachment to the land may be one of the main reasons
for the slow acceptance of new vertical developments in Costa Rica, even though there might exist other factors.Universidad de Costa Rica/[]/UCR/Costa RicaUniversidade Federal de Santa Catarina/[]/UFSC/BrasilUCR::Vicerrectoría de Docencia::Ciencias Sociales::Facultad de Ciencias Sociales::Escuela de Geografí
Carbono, Nitrogênio, Abundância Natural de Δ13C e Δ15N do Solo sob Sistemas Agroflorestais
Pan-cancer analysis of whole genomes
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe
Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age
Background Preterm birth and shorter duration of pregnancy are associated with increased morbidity in neonatal and later life. As the epigenome is known to have an important role during fetal development, we investigated associations between gestational age and blood DNA methylation in children. Methods We performed meta-analysis of Illumina's HumanMethylation450-array associations between gestational age and cord blood DNA methylation in 3648 newborns from 17 cohorts without common pregnancy complications, induced delivery or caesarean section. We also explored associations of gestational age with DNA methylation measured at 4-18 years in additional pediatric cohorts. Follow-up analyses of DNA methylation and gene expression correlations were performed in cord blood. DNA methylation profiles were also explored in tissues relevant for gestational age health effects: fetal brain and lung. Results We identified 8899 CpGs in cord blood that were associated with gestational age (range 27-42 weeks), at Bonferroni significance, P < 1.06 x 10(- 7), of which 3343 were novel. These were annotated to 4966 genes. After restricting findings to at least three significant adjacent CpGs, we identified 1276 CpGs annotated to 325 genes. Results were generally consistent when analyses were restricted to term births. Cord blood findings tended not to persist into childhood and adolescence. Pathway analyses identified enrichment for biological processes critical to embryonic development. Follow-up of identified genes showed correlations between gestational age and DNA methylation levels in fetal brain and lung tissue, as well as correlation with expression levels. Conclusions We identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues. These findings may contribute to understanding mechanisms linking gestational age to health effects