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‣ Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals

LIPS, Esther H.; GABORIEAU, Valerie; MCKAY, James D.; CHABRIER, Amelie; HUNG, Rayjean J.; BOFFETTA, Paolo; HASHIBE, Mia; ZARIDZE, David; SZESZENIA-DABROWSKA, Neonilia; LISSOWSKA, Jolanta; RUDNAI, Peter; FABIANOVA, Eleonora; MATES, Dana; BENCKO, Vladimir;
Fonte: OXFORD UNIV PRESS Publicador: OXFORD UNIV PRESS
Tipo: Artigo de Revista Científica
Português
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Methods We performed a detailed analysis of one 15q single nucleotide polymorphism (SNP) (rs16969968) with smoking behaviour and cancer risk in a total of 17 300 subjects from five LC studies and four upper aerodigestive tract (UADT) cancer studies. Results Subjects with one minor allele smoked on average 0.3 cigarettes per day (CPD) more, whereas subjects with the homozygous minor AA genotype smoked on average 1.2 CPD more than subjects with a GG genotype (P < 0.001). The variant was associated with heavy smoking (> 20 CPD) [odds ratio (OR) = 1.13, 95% confidence interval (CI) 0.96-1.34, P = 0.13 for heterozygotes and 1.81, 95% CI 1.39-2.35 for homozygotes, P < 0.0001]. The strong association between the variant and LC risk (OR = 1.30, 95% CI 1.23-1.38, P = 1 x 10(-18)), was virtually unchanged after adjusting for this smoking association (smoking adjusted OR = 1.27, 95% CI 1.19-1.35, P = 5 x 10(-13)). Furthermore, we found an association between the variant allele and an earlier age of LC onset (P = 0.02). The association was also noted in UADT cancers (OR = 1.08, 95% CI 1.01-1.15, P = 0.02). Genome wide association (GWA) analysis of over 300 000 SNPs on 11 219 subjects did not identify any additional variants related to smoking behaviour. Conclusions This study confirms the strong association between 15q gene variants and LC and shows an independent association with smoking quantity...

‣ Supporting content-based image retrieval and computer-aided diagnosis systems with association rule-based techniques

RIBEIRO, Marcela X.; BUGATTI, Pedro H.; TRAINA JR., Caetano; MARQUES, Paulo M. A.; ROSA, Natalia A.; TRAINA, Agma J. M.
Fonte: ELSEVIER SCIENCE BV Publicador: ELSEVIER SCIENCE BV
Tipo: Artigo de Revista Científica
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In this work, we take advantage of association rule mining to support two types of medical systems: the Content-based Image Retrieval (CBIR) systems and the Computer-Aided Diagnosis (CAD) systems. For content-based retrieval, association rules are employed to reduce the dimensionality of the feature vectors that represent the images and to improve the precision of the similarity queries. We refer to the association rule-based method to improve CBIR systems proposed here as Feature selection through Association Rules (FAR). To improve CAD systems, we propose the Image Diagnosis Enhancement through Association rules (IDEA) method. Association rules are employed to suggest a second opinion to the radiologist or a preliminary diagnosis of a new image. A second opinion automatically obtained can either accelerate the process of diagnosing or to strengthen a hypothesis, increasing the probability of a prescribed treatment be successful. Two new algorithms are proposed to support the IDEA method: to pre-process low-level features and to propose a preliminary diagnosis based on association rules. We performed several experiments to validate the proposed methods. The results indicate that association rules can be successfully applied to improve CBIR and CAD systems...

‣ "Generalização de regras de associação" ; Generalization of association rules

Domingues, Marcos Aurélio
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 27/04/2004 Português
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Mineração de Dados é um processo de natureza iterativa e interativa responsável por identificar padrões em grandes conjuntos de dados, objetivando extrair conhecimento válido, útil e inovador a partir desses. Em Mineração de Dados, Regras de Associação é uma técnica que consiste na identificação de padrões intrínsecos ao conjunto de dados. Essa técnica tem despertado grande interesse nos pesquisadores de Mineração de Dados e nas organizações, entretanto, a mesma possui o inconveniente de gerar grande volume de conhecimento no formato de regras, dificultando a análise e interpretação dos resultados pelo usuário. Nesse contexto, este trabalho tem como objetivo principal generalizar e eliminar Regras de Associação não interessantes e/ou redundantes, facilitando, dessa maneira, a análise das regras obtidas com relação à compreensibilidade e tamanho do conjunto de regras. A generalização das Regras de Associação é realizada com o uso de taxonomias. Entre os principais resultados deste trabalho destacam-se a proposta e a implementação do algoritmo GART e do módulo computacional RulEE-GAR. O algoritmo GART (Generalization of Association Rules using Taxonomies - Generalização de Regras de Associação usando Taxonomias) utiliza taxonomias para generalizar Regras de Associação. Já o módulo RulEE-GAR...

‣ Suporte a sistemas de auxílio ao diagnóstico e de recuperação de imagens por conteúdo usando mineração de regras de associação; Supporting Computer-Aided Diagnosis and Content-Based Image Retrieval Systems through Association Rule Mining

Ribeiro, Marcela Xavier
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 16/12/2008 Português
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Neste trabalho, a mineração de regras de associação é utilizada para dar suporte a dois tipos de sistemas médicos: os sistemas de busca por conteúdo em imagens (Content-based Image Retrieval - CBIR) e os sistemas de auxílio ao diagnóstico (Computer Aided Diagnosis - CAD). Na busca por conteúdo, regras de associação são empregadas para reduzir a dimensionalidade dos vetores de características que representam as imagens e para diminuir o ``gap semântico'', que existe entre as características de baixo nível das imagens e seu significado semântico. O algoritmo StARMiner (Statistical Association Rule Miner) foi desenvolvido para associar características de baixo nível das imagens com o seu significado semântico, sendo também utilizado para realizar seleção de características em bases de imagens médicas, melhorando a precisão dos sistemas CBIR. Para dar suporte aos sistemas CAD, o método IDEA (Image Diagnosis Enhancement through Association rules) foi desenvolvido. Nesse método regras de associação são empregadas para sugerir uma segunda opinião ou diagnóstico preliminar de uma nova imagem para o radiologista. A segunda opinião automaticamente gerada pelo método pode acelerar o processo de diagnóstico de uma imagem ou reforçar uma hipótese...

‣ Descoberta direta e eficiente de regras de associação ótimas; Discovery direct and efficient of optimal association rules

Assunção, Alinson Sousa de
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 16/12/2011 Português
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Um dos principais interesses na descoberta do conhecimento e mineração de dados é a indução de regras de associação. Regras de associação caracterizam as relações entre os dados a partir de um conjunto de dados estruturado com transações, onde cada transação contém um subconjunto de itens. Seja X e Y dois conjuntos de itens disjuntos, então a regra X → Y define um relacionamento, isto é, a dependência ou a co-ocorrência entre os conjuntos X e Y. Um dos algoritmos mais conhecidos para geração de regras de associação é o algoritmo Apriori. Ele explora regras de associação que respeitam o limiar suporte mínimo, ou seja, as regras devem aparecer em uma quantidade mínima de transações. Esse limiar tem a capacidade de controlar a quantidade de regras extraídas durante a mineração. Entretanto, a frequência ou suporte não consegue medir o nível de interesse de uma regra. Para medir a importância ou interesse de uma regra em relação a outras foram desenvolvidas medidas de interesse. Tais medidas são calculadas a partir das frequências dos conjuntos de itens X, Y e do par XY. Apesar das medidas de interesse realizarem uma filtragem das regras desinteressantes, elas não acarretam na diminuição no tempo de execução da mineração. Para vencer essa dificuldade...

‣ Enhancing spatial association rule mining in geographic databases; Melhorando a Mineração de Regras de Associação Espacial em Bancos de Dados Geográficos

Bogorny, Vania
Fonte: Universidade Federal do Rio Grande do Sul Publicador: Universidade Federal do Rio Grande do Sul
Tipo: Tese de Doutorado Formato: application/pdf
Português
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A técnica de mineração de regras de associação surgiu com o objetivo de encontrar conhecimento novo, útil e previamente desconhecido em bancos de dados transacionais, e uma grande quantidade de algoritmos de mineração de regras de associação tem sido proposta na última década. O maior e mais bem conhecido problema destes algoritmos é a geração de grandes quantidades de conjuntos freqüentes e regras de associação. Em bancos de dados geográficos o problema de mineração de regras de associação espacial aumenta significativamente. Além da grande quantidade de regras e padrões gerados a maioria são associações do domínio geográfico, e são bem conhecidas, normalmente explicitamente representadas no esquema do banco de dados. A maioria dos algoritmos de mineração de regras de associação não garantem a eliminação de dependências geográficas conhecidas a priori. O resultado é que as mesmas associações representadas nos esquemas do banco de dados são extraídas pelos algoritmos de mineração de regras de associação e apresentadas ao usuário. O problema de mineração de regras de associação espacial pode ser dividido em três etapas principais: extração dos relacionamentos espaciais, geração dos conjuntos freqüentes e geração das regras de associação. A primeira etapa é a mais custosa tanto em tempo de processamento quanto pelo esforço requerido do usuário. A segunda e terceira etapas têm sido consideradas o maior problema na mineração de regras de associação em bancos de dados transacionais e tem sido abordadas como dois problemas diferentes: “frequent pattern mining” e “association rule mining”. Dependências geográficas bem conhecidas aparecem nas três etapas do processo. Tendo como objetivo a eliminação dessas dependências na mineração de regras de associação espacial essa tese apresenta um framework com três novos métodos para mineração de regras de associação utilizando restrições semânticas como conhecimento a priori. O primeiro método reduz os dados de entrada do algoritmo...

‣ Effect of race, genetic population structure, and genetic models in two-locus association studies: clustering of functional renin-angiotensin system gene variants in hypertension association studies

Pereira,A.C.; Mota,G.A.; Benseñor,I.; Lotufo,P.A.; Krieger,J.E.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/11/2001 Português
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Previous genetic association studies have overlooked the potential for biased results when analyzing different population structures in ethnically diverse populations. The purpose of the present study was to quantify this bias in two-locus association studies conducted on an admixtured urban population. We studied the genetic structure distribution of angiotensin-converting enzyme insertion/deletion (ACE I/D) and angiotensinogen methionine/threonine (M/T) polymorphisms in 382 subjects from three subgroups in a highly admixtured urban population. Group I included 150 white subjects; group II, 142 mulatto subjects, and group III, 90 black subjects. We conducted sample size simulation studies using these data in different genetic models of gene action and interaction and used genetic distance calculation algorithms to help determine the population structure for the studied loci. Our results showed a statistically different population structure distribution of both ACE I/D (P = 0.02, OR = 1.56, 95% CI = 1.05-2.33 for the D allele, white versus black subgroup) and angiotensinogen M/T polymorphism (P = 0.007, OR = 1.71, 95% CI = 1.14-2.58 for the T allele, white versus black subgroup). Different sample sizes are predicted to be determinant of the power to detect a given genotypic association with a particular phenotype when conducting two-locus association studies in admixtured populations. In addition...

‣ Evaluation of imputation-based association in and around the integrin-α-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE)

Han, Shizhong; Kim-Howard, Xana; Deshmukh, Harshal; Kamatani, Yoichiro; Viswanathan, Parvathi; Guthridge, Joel M.; Thomas, Kenaz; Kaufman, Kenneth M.; Ojwang, Joshua; Rojas-Villarraga, Adriana; Baca, Vicente; Orozco, Lorena; Rhodes, Benjamin; Choi, Chan-B
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
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We recently identified a novel non-synonymous variant, rs1143679, at exon 3 of the ITGAM gene associated with systemic lupus erythematosus (SLE) susceptibility in European-Americans (EAs) and African-Americans. Using genome-wide association approach, three other studies also independently reported an association between SLE susceptibility and ITGAM or ITGAM-ITGAX region. The primary objectives of this study are to assess whether single or multiple causal variants from the same gene or any nearby gene(s) are involved in SLE susceptibility and to confirm a robust ITGAM association across nine independent data sets (n = 8211). First, we confirmed our previously reported association of rs1143679 (risk allele ‘A’) with SLE in EAs (P = 1.0 × 10−8) and Hispanic-Americans (P = 2.9 × 10−5). Secondly, using a comprehensive imputation-based association test, we found that ITGAM is one of the major non-human leukocyte antigen susceptibility genes for SLE, and the strongest association for EA is the same coding variant rs1143679 (log10Bayes factor=20, P = 6.17 × 10−24). Thirdly, we determined the robustness of rs1143679 association with SLE across three additional case–control samples, including UK (P = 6.2 × 10−8), Colombian (P = 3.6 × 10−7)...

‣ A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

Bossini-Castillo, Lara; Martin, Jose-Ezequiel; Broen, Jasper; Gorlova, Olga; Simeón, Carmen P.; Beretta, Lorenzo; Vonk, Madelon C.; Luis Callejas, Jose; Castellví, Ivan; Carreira, Patricia; José García-Hernández, Francisco; Fernández Castro, Mónica
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
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A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this locus in different Caucasian cohorts. We analyzed 10 GWAS-genotyped SNPs in the IL12RB2 region (2309 SSc patients and 5161 controls). We then selected three SNPs (rs3790567, rs3790566 and rs924080) based on their significance level in the GWAS, for follow-up in an independent European cohort comprising 3344 SSc and 3848 controls. The most-associated SNP (rs3790567) was further tested in an independent cohort comprising 597 SSc patients and 1139 controls from the USA. After conditional logistic regression analysis of the GWAS data, we selected rs3790567 [PMH= 1.92 × 10−5 odds ratio (OR) = 1.19] as the genetic variant with the firmest independent association observed in the analyzed GWAS peak of association. After the first follow-up phase, only the association of rs3790567 was consistent (PMH= 4.84 × 10−3 OR = 1.12). The second follow-up phase confirmed this finding (Pχ2 = 2.82 × 10−4 OR = 1.34). After performing overall pooled-analysis of all the cohorts included in the present study...

‣ Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity

El-Sayed Moustafa, Julia S.; Eleftherohorinou, Hariklia; de Smith, Adam J.; Andersson-Assarsson, Johanna C.; Couto Alves, Alexessander; Hadjigeorgiou, Eleni; Walters, Robin G.; Asher, Julian E.; Bottolo, Leonardo; Buxton, Jessica L.; Sladek, Rob; Meyre, D
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
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Variable number tandem repeats (VNTRs) constitute a relatively under-examined class of genomic variants in the context of complex disease because of their sequence complexity and the challenges in assaying them. Recent large-scale genome-wide copy number variant mapping and association efforts have highlighted the need for improved methodology for association studies using these complex polymorphisms. Here we describe the in-depth investigation of a complex region on chromosome 8p21.2 encompassing the dedicator of cytokinesis 5 (DOCK5) gene. The region includes two VNTRs of complex sequence composition which flank a common 3975 bp deletion, all three of which were genotyped by polymerase chain reaction and fragment analysis in a total of 2744 subjects. We have developed a novel VNTR association method named VNTRtest, suitable for association analysis of multi-allelic loci with binary and quantitative outcomes, and have used this approach to show significant association of the DOCK5 VNTRs with childhood and adult severe obesity (Pempirical= 8.9 × 10−8 and P= 3.1 × 10−3, respectively) which we estimate explains ∼0.8% of the phenotypic variance. We also identified an independent association between the 3975 base pair (bp) deletion and obesity...

‣ Association Patterns Among Wild Chimpanzees (Pan Troglodytes Schweinfurthii) Reflect Sex Differences in Cooperation

Wrangham, Richard W.; Gilby, Ian C.
Fonte: Springer Verlag Publicador: Springer Verlag
Tipo: Artigo de Revista Científica
Português
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Theory predicts that frequent dyadic association should promote cooperation through kin selection or social tolerance. Here we test the hypothesis that sex differences in the strength and stability of association preferences among free-ranging chimpanzees conform to sex differences in cooperative behavior. Using long-term data from the Kanyawara chimpanzee (Pan troglodytes schweinfurthii)community (Kibale National Park, Uganda), we calculated indices of intra-sexual dyadic association over a 10-year period. We found that (1) male–male dyads had significantly stronger association indices than female–female dyads, (2) the pattern of association preferences in both sexes changed little over the entire study period, and (3) when comparing periods with different alpha males, changes in association strength were more frequent among males. These results demonstrate that both the strength and stability of association patterns are important components of social relationships. Male chimpanzees, which are characterized by frequent cooperation, had association preferences that were both strong and stable, suggesting that forming long-term bonds is an important dominance strategy. However, the fact that male association patterns were sensitive to upheaval in the male dominance hierarchy suggests that males also take advantage of a changing social climate when choosing association partners. By contrast...

‣ Presidents of the Nurses Association of the Commonwealth of the Bahamas

Nurses Association of the Commonwealth of the Bahamas
Fonte: Nurses Association of the Commonwealth of the Bahamas; Nurses Association of the Commonwealth of the Bahamas ( Nassau, Bahamas ) Publicador: Nurses Association of the Commonwealth of the Bahamas; Nurses Association of the Commonwealth of the Bahamas ( Nassau, Bahamas )
Tipo: Artigo de Revista Científica Formato: 2 p. ; 28 cm
Publicado em //2002 Português
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Typescript with list of names of presidents of the Nurses Association of the Commonwealth of the Bahamas from 1943-2002.; p. 2 is an invitation card for the ICN (International Council of Nurses) Leadership for Change Workshop held in 1996.

‣ Mining the optimal class association rule set

Li, J.; Shen, H.; Topor, R.
Fonte: Elsevier Science BV Publicador: Elsevier Science BV
Tipo: Artigo de Revista Científica
Publicado em //2002 Português
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We define an optimal class association rule set to be the minimum rule set with the same predictive power of the complete class association rule set. Using this rule set instead of the complete class association rule set we can avoid redundant computation that would otherwise be required for mining predictive association rules and hence improve the efficiency of the mining process significantly. We present an efficient algorithm for mining the optimal class association rule set using an upward closure property of pruning weak rules before they are actually generated. We have implemented the algorithm and our experimental results show that our algorithm generates the optimal class association rule set, whose size is smaller than 1/17 of the complete class association rule set on average, in significantly less rime than generating the complete class association rule set. Our proposed criterion has been shown very effective for pruning weak rules in dense databases.; http://www.elsevier.com/wps/find/journaldescription.cws_home/525448/description#description; Jiuyong Li, Hong Shen, and Rodney Topor

‣ Association of genetic loci with glucose levels in childhood and adolescence: a meta-analysis of over 6,000 children

Barker, A.; Sharp, S.J.; Timpson, N.J.; Bouatia-Naji, N.; Warrington, N.M.; Kanoni, S.; Beilin, L.J.; Brage, S.; Deloukas, P.; Evans, D.M.; Grontved, A.; Hassanali, N.; Lawlor, D.A.; Lecoeur, C.; Loos, R.J.F.; Lye, S.J.; McCarthy, M.I.; Mori, T.A.; Coumba
Fonte: American Diabetes Association Publicador: American Diabetes Association
Tipo: Artigo de Revista Científica
Publicado em //2011 Português
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OBJECTIVE To investigate whether associations of common genetic variants recently identified for fasting glucose or insulin levels in nondiabetic adults are detectable in healthy children and adolescents. RESEARCH DESIGN AND METHODS A total of 16 single nucleotide polymorphisms (SNPs) associated with fasting glucose were genotyped in six studies of children and adolescents of European origin, including over 6,000 boys and girls aged 9–16 years. We performed meta-analyses to test associations of individual SNPs and a weighted risk score of the 16 loci with fasting glucose. RESULTS Nine loci were associated with glucose levels in healthy children and adolescents, with four of these associations reported in previous studies and five reported here for the first time (GLIS3, PROX1, SLC2A2, ADCY5, and CRY2). Effect sizes were similar to those in adults, suggesting age-independent effects of these fasting glucose loci. Children and adolescents carrying glucose-raising alleles of G6PC2, MTNR1B, GCK, and GLIS3 also showed reduced β-cell function, as indicated by homeostasis model assessment of β-cell function. Analysis using a weighted risk score showed an increase [β (95% CI)] in fasting glucose level of 0.026 mmol/L (0.021–0.031) for each unit increase in the score. CONCLUSIONS Novel fasting glucose loci identified in genome-wide association studies of adults are associated with altered fasting glucose levels in healthy children and adolescents with effect sizes comparable to adults. In nondiabetic adults...

‣ Association supramoléculaire à l'état solide des fullerènes C60 et C70 avec le centrohexaindane

Lachapelle, Virginie
Fonte: Université de Montréal Publicador: Université de Montréal
Tipo: Thèse ou Mémoire numérique / Electronic Thesis or Dissertation
Português
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Le fullerène C60, une molécule sphérique, et le C70, un analogue ellisoïde, sont des composés aromatiques convexes constitués exclusivement d'atomes de carbone. La nature aromatique de la surface de ces cages de carbone rend possible leur association à l'état solide avec d'autres molécules aromatiques de topologie complémentaire. En particulier, l'association des fullerènes avec des composés présentant des motifs concaves aromatiques, via une association de type concave-convexe, est favorable. En effet, les interactions π•••π de type concave-convexe sont amplifiées grâce à la complémentarité topologique des partenaires impliqués. Le centrohexaindane est un hydrocarbure non planaire rigide qui a été synthétisé pour la première fois en 1988 par Kuck et collaborateurs. Cette molécule possède quatre surfaces aromatiques concaves orientées dans une géométrie tétraédrique qui sont susceptibles d'interagir favorablement avec les fullerènes. Nous avons ainsi avec succès cocristallisé le centrohexaindane avec les fullerènes C60 et C70. Puis, nous avons étudié les assemblages à l'état solide entre le centrohexaindane et les fullerènes par l'analyse des structures résolues via diffraction des rayons X. Les surfaces concaves aromatiques du centrohexaindane se sont révélées être propices à une association avec les fullerènes C60 et C70 via des interactions π•••π de type concave-convexe...

‣ An association study of TOLL and CARD with leprosy susceptibility in Chinese population

Liu, Hong; Bao, Fangfang; Irwanto, Astrid; Fu, Xi'an; Lu, Nan; Yu, Gongqi; Yu, Yongxiang; Sun, Yonghu; Low, Huiqi; Li, Yi; Liany, Herty; Yuan, Chunying; Li, Jinghui; Liu, Jian; Chen, Mingfei; Liu, Huaxu; Wang, Na; You, Jiabao; Ma, Shanshan; Niu, Guiye; Zh
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
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Previous genome-wide association studies (GWASs) identified multiple susceptibility loci that have highlighted the important role of TLR (Toll-like receptor) and CARD (caspase recruitment domain) genes in leprosy. A large three-stage candidate gene-based association study of 30 TLR and 47 CARD genes was performed in the leprosy samples of Chinese Han. Of 4363 SNPs investigated, eight SNPs showed suggestive association (P < 0.01) in our previously published GWAS datasets (Stage 1). Of the eight SNPs, rs2735591 and rs4889841 showed significant association (P < 0.001) in an independent series of 1504 cases and 1502 controls (Stage 2), but only rs2735591 (next to BCL10) showed significant association in the second independent series of 938 cases and 5827 controls (Stage 3). Rs2735591 showed consistent association across the three stages (P > 0.05 for heterogeneity test), significant association in the combined validation samples (Pcorrected = 5.54 × 10−4 after correction for 4363 SNPs tested) and genome-wide significance in the whole GWAS and validation samples (P = 1.03 × 10−9, OR = 1.24). In addition, we demonstrated the lower expression of BCL10 in leprosy lesions than normal skins and a significant gene connection between BCL10 and the eight previously identified leprosy loci that are associated with NFκB...

‣ Common NOTCH3 Variants and Cerebral Small-Vessel Disease

Rutten-Jacobs, Loes C. A.; Traylor, Matthew; Adib-Samii, Poneh; Thijs, Vincent; Sudlow, Cathie; Rothwell, Peter M.; Boncoraglio, Giorgio; Dichgans, Martin; Bevan, Steve; Meschia, James; Levi, Christopher; Rost, Natalia S.; Rosand, Jonathan; Hassan, Ahamad
Fonte: American Heart Association Publicador: American Heart Association
Tipo: Article; published version
Português
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This is the final published version. It first appeared at http://stroke.ahajournals.org/content/46/6/1482.long.; Background and Purpose?The most common monogenic cause of cerebral small-vessel disease is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, caused by NOTCH3 gene mutations. It has been hypothesized that more common variants in NOTCH3 may also contribute to the risk of sporadic small-vessel disease. Previously, 4 common variants (rs10404382, rs1043994, rs10423702, and rs1043997) were found to be associated with the presence of white matter hyperintensity in hypertensive community-dwelling elderly. Methods?We investigated the association of common single nucleotide polymorphisms (SNPs) in NOTCH3 in 1350 patients with MRI-confirmed lacunar stroke and 7397 controls, by meta-analysis of genome-wide association study data sets. In addition, we investigated the association of common SNPs in NOTCH3 with MRI white matter hyperintensity volumes in 3670 white patients with ischemic stroke. In each analysis, we considered all SNPs within the NOTCH3 gene, and within 50-kb upstream and downstream of the coding region. A total of 381 SNPs from the 1000 genome population with a mean allele frequency >0.01 were included in the analysis. A significance level of P<0.0015 was used...

‣ Convergence of Genetic Disease Association and Ocular Expression

Hawthorne, Felicia Alessandra
Fonte: Universidade Duke Publicador: Universidade Duke
Tipo: Dissertação
Publicado em //2012 Português
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The visual system in humans provides the ability to interpret our surroundings from many distances. This complex system serves as a powerful sense which can drastically impact the quality of life when threatened or eliminated. While the mechanisms involved in visual interpretation are largely understood, many of the mechanisms of ocular diseases remain elusive. The most common ocular disorders are refractive errors, where failure of normal growth processes results in eye components with shape and sizes that are not matched to provide uncorrected sharp visual acuity without correction. Myopia, or nearsightedness, is a refractive error with prevalence rates of epidemic proportions in some urban Asian settings, and rising in other developed countries. Pathological, or high myopia, has an increased risk for potentially blinding ocular morbidities which can be irreversible and further negatively impact quality of life. Myopia, like other common ocular disorders, results from a combination of environmental and genetic factors. Over 20 candidate genomic regions have been identified as involved in myopic development progression.

One such locus, MYP3, on chromosome 12q21-23 spans nearly 44 Mb with more than 200 protein-encoding genes mapped within. Sizable candidate disease genomic regions typically require refinement to identify genes or variants within them which may contribute to disease development. Without an understanding of the underlying mechanistic framework of a disease...

‣ Association of obesity with anxiety, depression and emotional well being:a community survey

Jorm, Anthony F; Korten, Ailsa; Christensen, Helen; Jacomb, Trish; Rodgers, Bryan; Parslow, Ruth
Fonte: Public Health Association of Australia Publicador: Public Health Association of Australia
Tipo: Artigo de Revista Científica
Português
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45.943516%
Objective: To investigate the association of obesity with anxiety, depression and emotional well-being (positive and negative affect) in three age groups. Methods: A cross-sectional survey was carried out in Canberra and the neighbouring town of Queanbeyan, Australia, with a random sample from the electoral roll of 2,280 persons aged 20-24, 2,334 aged 40-44, and 2,305 aged 60-64. Results: Self-reported height and weight were used to classify participants as underweight (body mass index of less than 18.5), acceptable weight (18.5 to less than 25), overweight (25 to less than 30) or obese (30 and over). Obesity in women was associated with more anxiety and depression symptoms and less positive affect, but there were only weak and inconsistent associations in men. When factors that might mediate any association were controlled (physical ill health, lack of physical activity, poorer social support, less education and financial problems), a different picture emerged, with the underweight women having more depression and negative affect and the obese and overweight women tending to have better mental health than the acceptable weight group. Controlling for physical ill health alone accounted for the association of obesity with anxiety and depression in women. Conclusions: Obesity has an association with anxiety...

‣ Association between abnormal kinematics and degenerative change in knees of people with chronic anterior cruciate ligament deficiency: A magnetic resonance imaging study

Scarvell, Jennifer M; Smith, Paul; Refshauge, Kathryn M; Galloway, Howard R; Woods, Kevin
Fonte: Australian Physiotherapy Association Publicador: Australian Physiotherapy Association
Tipo: Artigo de Revista Científica
Português
Relevância na Pesquisa
45.8502%
Progressive degeneration of the anterior cruciate ligament (ACL) deficient knee may be partly due to chondral trauma at the time of ACL rupture and repeat episodes of subluxation, but also due to aberrant kinematics altering the wear pattern at the tibiofemoral interface. The hypothesis that altered kinematics, represented by the tibiofemoral contact pattern, would be associated with articular cartilage degeneration in ACL-deficient knees was tested in a cross-sectional study of 23 subjects with a history of > 10 years ACL-deficiency without knee reconstruction. Subjects were aged 31 to 67 years. Eleven were male, 12 were female. Sagittal magnetic resonance imaging (MRI) scans enabled tibiofemoral contact mapping as subjects performed a closed-chain leg-press. Images were acquired at 15 degree intervals from 0 degrees to 90 degrees knee flexion. Articular cartilage degeneration was assessed by diagnostic MRI and where possible, arthroscopy. The ACL-deficient knees had a posterior tibiofemoral contact pattern on the tibial plateau compared to the healthy knees (F(1,171) = 9.2, p = 0.003). The difference appeared to be seen in the medial compartment (F(1,171) = 3.2, p = 0.07), though this failed to reach significance. Articular cartilage degeneration in the medial compartment was related to the variation of the tibiofemoral contact pattern (r = -0.53...