Base de dados : MEDLINE
Pesquisa : G05.420.590 [Categoria DeCS]
Referências encontradas : 1409 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 141 ir para página                         

  1 / 1409 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29240910
[Au] Autor:Wehby GL; Domingue BW; Ullrich F; Wolinsky FD
[Ad] Endereço:Department of Health Management and Policy, University of Iowa, Iowa City.
[Ti] Título:Genetic Predisposition to Obesity and Medicare Expenditures.
[So] Source:J Gerontol A Biol Sci Med Sci;73(1):66-72, 2017 Dec 12.
[Is] ISSN:1758-535X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Background: The relationship between obesity and health expenditures is not well understood. We examined the relationship between genetic predisposition to obesity measured by a polygenic risk score for body mass index (BMI) and Medicare expenditures. Methods: Biennial interview data from the Health and Retirement Survey for a nationally representative sample of older adults enrolled in fee-for-service Medicare were obtained from 1991 through 2010 and linked to Medicare claims for the same period and to Genome-Wide Association Study (GWAS) data. The study included 6,628 Medicare beneficiaries who provided 68,627 complete person-year observations during the study period. Outcomes were total and service-specific Medicare expenditures and indicators for expenditures exceeding the 75th and 90th percentiles. The BMI polygenic risk score was derived from GWAS data. Regression models were used to examine how the BMI polygenic risk score was related to health expenditures adjusting for demographic factors and GWAS-derived ancestry. Results: Greater genetic predisposition to obesity was associated with higher Medicare expenditures. Specifically, a 1 SD increase in the BMI polygenic risk score was associated with a $805 (p < .001) increase in annual Medicare expenditures per person in 2010 dollars (~15% increase), a $370 (p < .001) increase in inpatient expenses, and a $246 (p < .001) increase in outpatient services. A 1 SD increase in the polygenic risk score was also related to increased likelihood of expenditures exceeding the 75th percentile by 18% (95% CI: 10%-28%) and the 90th percentile by 27% (95% CI: 15%-40%). Conclusion: Greater genetic predisposition to obesity is associated with higher Medicare expenditures.
[Mh] Termos MeSH primário: Índice de Massa Corporal
Predisposição Genética para Doença
Custos de Cuidados de Saúde/estatística & dados numéricos
Gastos em Saúde/estatística & dados numéricos
Medicare/estatística & dados numéricos
Herança Multifatorial/genética
Obesidade/genética
[Mh] Termos MeSH secundário: Idoso
Assistência Ambulatorial
Feminino
Seguimentos
Estudo de Associação Genômica Ampla
Seres Humanos
Masculino
Meia-Idade
Obesidade/economia
Obesidade/epidemiologia
Prevalência
Estudos Retrospectivos
Estados Unidos/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171215
[St] Status:MEDLINE
[do] DOI:10.1093/gerona/glx062


  2 / 1409 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29198719
[Au] Autor:Shaffer JR; Li J; Lee MK; Roosenboom J; Orlova E; Adhikari K; Gallo C; Poletti G; Schuler-Faccini L; Bortolini MC; Canizales-Quinteros S; Rothhammer F; Bedoya G; González-José R; Pfeffer PE; Wollenschlaeger CA; Hecht JT; Wehby GL; Moreno LM; Ding A; Jin L; Yang Y; Carlson JC; Leslie EJ; Feingold E; Marazita ML; Hinds DA; Cox TC; Wang S; Ruiz-Linares A; Weinberg SM; 23andMe Research Team
[Ad] Endereço:Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
[Ti] Título:Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment.
[So] Source:Am J Hum Genet;101(6):913-924, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The genetic basis of earlobe attachment has been a matter of debate since the early 20 century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10 ) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development.
[Mh] Termos MeSH primário: Orelha/anatomia & histologia
Herança Multifatorial/genética
Locos de Características Quantitativas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Animais
Região Branquial/anatomia & histologia
Criança
Pré-Escolar
Proteínas de Ligação a DNA/genética
Receptor Edar/genética
Estudo de Associação Genômica Ampla
Genótipo
Seres Humanos
Camundongos
Meia-Idade
Proteínas Mitocondriais/genética
Fator de Transcrição PAX9/genética
Proteínas/genética
Receptores Acoplados a Proteínas-G/genética
Proteínas Ribossômicas/genética
Fatores de Transcrição/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (EDAR protein, human); 0 (Edar Receptor); 0 (GPR126 protein, human); 0 (MRPS22 protein, human); 0 (Mitochondrial Proteins); 0 (PAX9 Transcription Factor); 0 (PAX9 protein, human); 0 (Proteins); 0 (Receptors, G-Protein-Coupled); 0 (Ribosomal Proteins); 0 (SKT protein, human); 0 (SP5 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171205
[St] Status:MEDLINE


  3 / 1409 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29330225
[Au] Autor:Maione L; Dwyer AA; Francou B; Guiochon-Mantel A; Binart N; Bouligand J; Young J
[Ad] Endereço:University of Paris-SudParis-Sud Medical School, Le Kremlin-Bicêtre, France.
[Ti] Título:GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.
[So] Source:Eur J Endocrinol;178(3):R55-R80, 2018 Mar.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly, patients and their families should be informed of this risk and given genetic counseling. CHH and KS are phenotypically and genetically heterogeneous diseases in which the risk of transmission largely depends on the gene(s) responsible(s). Inheritance may be classically Mendelian yet more complex; oligogenic modes of transmission have also been described. The prevalence of oligogenicity has risen dramatically since the advent of massively parallel next-generation sequencing (NGS) in which tens, hundreds or thousands of genes are sequenced at the same time. NGS is medically and economically more efficient and more rapid than traditional Sanger sequencing and is increasingly being used in medical practice. Thus, it seems plausible that oligogenic forms of CHH/KS will be increasingly identified making genetic counseling even more complex. In this context, the main challenge will be to differentiate true oligogenism from situations when several rare variants that do not have a clear phenotypic effect are identified by chance. This review aims to summarize the genetics of CHH/KS and to discuss the challenges of oligogenic transmission and also its role in incomplete penetrance and variable expressivity in a perspective of genetic counseling.
[Mh] Termos MeSH primário: Aconselhamento Genético
Hipogonadismo/genética
Infertilidade/genética
Síndrome de Kallmann/genética
Herança Multifatorial/genética
[Mh] Termos MeSH secundário: Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Hipogonadismo/congênito
Penetrância
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180114
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0749


  4 / 1409 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29220676
[Au] Autor:Abadi A; Alyass A; Robiou du Pont S; Bolker B; Singh P; Mohan V; Diaz R; Engert JC; Yusuf S; Gerstein HC; Anand SS; Meyre D
[Ad] Endereço:Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON L8S 4L8, Canada.
[Ti] Título:Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution.
[So] Source:Am J Hum Genet;101(6):925-938, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A growing number of single-nucleotide polymorphisms (SNPs) have been associated with body mass index (BMI) and obesity, but whether the effects of these obesity-susceptibility loci are uniform across the BMI distribution remains unclear. We studied the effects of 37 BMI-associated SNPs in 75,230 adults of European ancestry across BMI percentiles by using conditional quantile regression (CQR) and meta-regression (MR) models. The effects of nine SNPs (24%)-rs1421085 (FTO; p = 8.69 × 10 ), rs6235 (PCSK1; p = 7.11 × 10 ), rs7903146 (TCF7L2; p = 9.60 × 10 ), rs11873305 (MC4R; p = 5.08 × 10 ), rs12617233 (FANCL; p = 5.30 × 10 ), rs11672660 (GIPR; p = 1.64 × 10 ), rs997295 (MAP2K5; p = 3.25 × 10 ), rs6499653 (FTO; p = 6.23 × 10 ), and rs3824755 (NT5C2; p = 7.90 × 10 )-increased significantly across the sample BMI distribution. We showed that such increases stemmed from unadjusted gene interactions that enhanced the effects of SNPs in persons with a high BMI. When 125 height-associated SNPs were analyzed for comparison, only one (<1%), rs6219 (IGF1, p = 1.80 × 10 ), showed effects that varied significantly across height percentiles. Cumulative gene scores of these SNPs (GS-BMI and GS-height) showed that only GS-BMI had effects that increased significantly across the sample distribution (BMI: p = 7.03 × 10 ; height: p = 0.499). Overall, these findings underscore the importance of gene-gene and gene-environment interactions in shaping the genetic architecture of BMI and advance a method for detecting such interactions by using only the sample outcome distribution.
[Mh] Termos MeSH primário: Estatura/genética
Índice de Massa Corporal
Herança Multifatorial/genética
Obesidade/genética
Penetrância
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Grupo com Ancestrais do Continente Europeu/genética
Frequência do Gene
Interação Gene-Ambiente
Predisposição Genética para Doença/genética
Seres Humanos
Meia-Idade
Polimorfismo de Nucleotídeo Único/genética
Locos de Características Quantitativas/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


  5 / 1409 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29198721
[Au] Autor:Ning Z; Lee Y; Joshi PK; Wilson JF; Pawitan Y; Shen X
[Ad] Endereço:Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Nobels väg 12A, SE-171 77 Stockholm, Sweden.
[Ti] Título:A Selection Operator for Summary Association Statistics Reveals Allelic Heterogeneity of Complex Traits.
[So] Source:Am J Hum Genet;101(6):903-912, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In recent years, as a secondary analysis in genome-wide association studies (GWASs), conditional and joint multiple-SNP analysis (GCTA-COJO) has been successful in allowing the discovery of additional association signals within detected loci. This suggests that many loci mapped in GWASs harbor more than a single causal variant. In order to interpret the underlying mechanism regulating a complex trait of interest in each discovered locus, researchers must assess the magnitude of allelic heterogeneity within the locus. We developed a penalized selection operator for jointly analyzing multiple variants (SOJO) within each mapped locus on the basis of LASSO (least absolute shrinkage and selection operator) regression derived from summary association statistics. We found that, compared to stepwise conditional multiple-SNP analysis, SOJO provided better sensitivity and specificity in predicting the number of alleles associated with complex traits in each locus. SOJO suggested causal variants potentially missed by GCTA-COJO. Compared to using top variants from genome-wide significant loci in GWAS, using SOJO increased the proportion of variance prediction for height by 65% without additional discovery samples or additional loci in the genome. Our empirical results indicate that human height is not only a highly polygenic trait, but also has high allelic heterogeneity within its established hundreds of loci.
[Mh] Termos MeSH primário: Estatura/genética
Herança Multifatorial/genética
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Alelos
Índice de Massa Corporal
Estudo de Associação Genômica Ampla
Seres Humanos
Locos de Características Quantitativas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171205
[St] Status:MEDLINE


  6 / 1409 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28744605
[Au] Autor:Turkheimer E; Beam CR; Sundet JM; Tambs K
[Ad] Endereço:University of Virginia, Charlottesville, VA, USA. ent3c@virginia.edu.
[Ti] Título:Interaction between Parental Education and Twin Correlations for Cognitive Ability in a Norwegian Conscript Sample.
[So] Source:Behav Genet;47(5):507-515, 2017 Sep.
[Is] ISSN:1573-3297
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We examine a sample of Norwegian twin conscripts for evidence of an interaction between parental education and the heritability of general cognitive ability (GA). Ability scores were obtained on 1706 pairs of twins who were conscripted into the Norwegian Armed Forces between 1931and 1960. Education scores were available for mothers and fathers; the majority of the parents had less than a high school education. GA scores were heteroscadistic with respect to mid-parent education, with reduced variability at higher levels of education. Both MZ and DZ twin correlations for GA were linearly and negatively related to mid-parent education, DZ twins substantially more so. When the model was extended to an ACE model consisting of standardized positive ACE variance components, the modification appeared to disappear. Further analysis revealed that this occurred because the steep decline of DZ twin correlations with increasing mid-parent education resulted in a violation of the classical twin model for much of the parameter space. Other phenomena that might result in large declines in DZ twin correlations are considered, along with implications for other studies of socioeconomic interactions with the heritability of GA in European samples.
[Mh] Termos MeSH primário: Inteligência/genética
Gêmeos Dizigóticos/genética
Gêmeos Monozigóticos/genética
[Mh] Termos MeSH secundário: Adulto
Cognição/fisiologia
Educação
Feminino
Interação Gene-Ambiente
Seres Humanos
Masculino
Herança Multifatorial/genética
Noruega
Pais/educação
Gêmeos Dizigóticos/psicologia
Gêmeos Monozigóticos/psicologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180205
[Lr] Data última revisão:
180205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.1007/s10519-017-9857-z


  7 / 1409 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27779626
[Au] Autor:Docherty AR; Moscati A; Peterson R; Edwards AC; Adkins DE; Bacanu SA; Bigdeli TB; Webb BT; Flint J; Kendler KS
[Ad] Endereço:Departments of Psychiatry and Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.
[Ti] Título:SNP-based heritability estimates of the personality dimensions and polygenic prediction of both neuroticism and major depression: findings from CONVERGE.
[So] Source:Transl Psychiatry;6(10):e926, 2016 10 25.
[Is] ISSN:2158-3188
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Biometrical genetic studies suggest that the personality dimensions, including neuroticism, are moderately heritable (~0.4 to 0.6). Quantitative analyses that aggregate the effects of many common variants have recently further informed genetic research on European samples. However, there has been limited research to date on non-European populations. This study examined the personality dimensions in a large sample of Han Chinese descent (N=10 064) from the China, Oxford, and VCU Experimental Research on Genetic Epidemiology study, aimed at identifying genetic risk factors for recurrent major depression among a rigorously ascertained cohort. Heritability of neuroticism as measured by the Eysenck Personality Questionnaire (EPQ) was estimated to be low but statistically significant at 10% (s.e.=0.03, P=0.0001). In addition to EPQ, neuroticism based on a three-factor model, data for the Big Five (BF) personality dimensions (neuroticism, openness, conscientiousness, extraversion and agreeableness) measured by the Big Five Inventory were available for controls (n=5596). Heritability estimates of the BF were not statistically significant despite high power (>0.85) to detect heritabilities of 0.10. Polygenic risk scores constructed by best linear unbiased prediction weights applied to split-half samples failed to significantly predict any of the personality traits, but polygenic risk for neuroticism, calculated with LDpred and based on predictive variants previously identified from European populations (N=171 911), significantly predicted major depressive disorder case-control status (P=0.0004) after false discovery rate correction. The scores also significantly predicted EPQ neuroticism (P=6.3 × 10 ). Factor analytic results of the measures indicated that any differences in heritabilities across samples may be due to genetic variation or variation in haplotype structure between samples, rather than measurement non-invariance. Findings demonstrate that neuroticism can be significantly predicted across ancestry, and highlight the importance of studying polygenic contributions to personality in non-European populations.
[Mh] Termos MeSH primário: Caráter
Transtorno Depressivo Maior/genética
Predisposição Genética para Doença/genética
Herança Multifatorial/genética
Neuroticismo
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Estudos de Coortes
Transtorno Depressivo Maior/diagnóstico
Transtorno Depressivo Maior/psicologia
Feminino
Variação Genética/genética
Genótipo
Seres Humanos
Meia-Idade
Determinação da Personalidade
Fenótipo
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171227
[Lr] Data última revisão:
171227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE
[do] DOI:10.1038/tp.2016.177


  8 / 1409 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28958330
[Au] Autor:Amor-Salamanca A; Castillo S; Gonzalez-Vioque E; Dominguez F; Quintana L; Lluís-Ganella C; Escudier JM; Ortega J; Lara-Pezzi E; Alonso-Pulpon L; Garcia-Pavia P
[Ad] Endereço:Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain.
[Ti] Título:Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
[So] Source:J Am Coll Cardiol;70(14):1732-1740, 2017 Oct 03.
[Is] ISSN:1558-3597
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Genetic screening programs in unselected individuals with increased levels of low-density lipoprotein cholesterol (LDL-C) have shown modest results in identifying individuals with familial hypercholesterolemia (FH). OBJECTIVES: This study assessed the prevalence of genetically confirmed FH in patients with acute coronary syndrome (ACS) and compared the diagnostic performance of FH clinical criteria versus FH genetic testing. METHODS: Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia was performed in 103 patients with ACS, age ≤65 years, and LDL-C levels ≥160 mg/dl. Dutch Lipid Clinic (DLC) and Simon Broome (SB) FH clinical criteria were also applied. RESULTS: The prevalence of genetically confirmed FH was 8.7% (95% confidence interval [CI]: 4.3% to 16.4%; n = 9); 29% (95% CI: 18.5% to 42.1%; n = 18) of patients without FH variants had a score highly suggestive of polygenic hypercholesterolemia. The prevalence of probable to definite FH according to DLC criteria was 27.2% (95% CI: 19.1% to 37.0%; n = 28), whereas SB criteria identified 27.2% of patients (95% CI: 19.1% to 37.0%; n = 28) with possible to definite FH. DLC and SB algorithms failed to diagnose 4 (44%) and 3 (33%) patients with genetically confirmed FH, respectively. Cascade genetic testing in first-degree relatives identified 6 additional individuals with FH. CONCLUSIONS: The prevalence of genetically confirmed FH in patients with ACS age ≤65 years and with LDL-C levels ≥160 mg/dl is high (approximately 9%). FH clinical algorithms do not accurately classify patients with FH. Genetic testing should be advocated in young patients with ACS and high LDL-C levels to allow prompt identification of patients with FH and relatives at risk.
[Mh] Termos MeSH primário: Síndrome Coronariana Aguda
LDL-Colesterol/sangue
Hiperlipoproteinemia Tipo II
Hipolipemiantes/uso terapêutico
Herança Multifatorial/genética
[Mh] Termos MeSH secundário: Síndrome Coronariana Aguda/diagnóstico
Síndrome Coronariana Aguda/epidemiologia
Síndrome Coronariana Aguda/prevenção & controle
Proteínas Adaptadoras de Transdução de Sinal/genética
Apolipoproteína B-100/genética
Apolipoproteínas E/genética
Comorbidade
Feminino
Testes Genéticos/métodos
Seres Humanos
Hiperlipoproteinemia Tipo II/diagnóstico
Hiperlipoproteinemia Tipo II/tratamento farmacológico
Hiperlipoproteinemia Tipo II/epidemiologia
Hiperlipoproteinemia Tipo II/genética
Masculino
Meia-Idade
Seleção de Pacientes
Prevalência
Prognóstico
Pró-Proteína Convertase 9/genética
Receptores de LDL/genética
Reprodutibilidade dos Testes
Medição de Risco/métodos
Fatores de Risco
Espanha/epidemiologia
Esterol Esterase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (APOB protein, human); 0 (Adaptor Proteins, Signal Transducing); 0 (ApoE protein, human); 0 (Apolipoprotein B-100); 0 (Apolipoproteins E); 0 (Cholesterol, LDL); 0 (Hypolipidemic Agents); 0 (LDLR protein, human); 0 (LDLRAP1 protein, human); 0 (Receptors, LDL); 0 (STAP1 protein, human); EC 3.1.1.13 (LIPA protein, human); EC 3.1.1.13 (Sterol Esterase); EC 3.4.21.- (PCSK9 protein, human); EC 3.4.21.- (Proprotein Convertase 9)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171005
[Lr] Data última revisão:
171005
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170930
[St] Status:MEDLINE


  9 / 1409 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28940650
[Au] Autor:Tan CH; Hyman BT; Tan JJX; Hess CP; Dillon WP; Schellenberg GD; Besser LM; Kukull WA; Kauppi K; McEvoy LK; Andreassen OA; Dale AM; Fan CC; Desikan RS
[Ad] Endereço:Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA.
[Ti] Título:Polygenic hazard scores in preclinical Alzheimer disease.
[So] Source:Ann Neurol;82(3):484-488, 2017 Sep.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Identifying asymptomatic older individuals at elevated risk for developing Alzheimer disease (AD) is of clinical importance. Among 1,081 asymptomatic older adults, a recently validated polygenic hazard score (PHS) significantly predicted time to AD dementia and steeper longitudinal cognitive decline, even after controlling for APOE ɛ4 carrier status. Older individuals in the highest PHS percentiles showed the highest AD incidence rates. PHS predicted longitudinal clinical decline among older individuals with moderate to high Consortium to Establish a Registry for Alzheimer's Disease (amyloid) and Braak (tau) scores at autopsy, even among APOE ɛ4 noncarriers. Beyond APOE, PHS may help identify asymptomatic individuals at highest risk for developing Alzheimer neurodegeneration. Ann Neurol 2017;82:484-488.
[Mh] Termos MeSH primário: Doença de Alzheimer/genética
Apolipoproteína E4/genética
Predisposição Genética para Doença
Herança Multifatorial
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Progressão da Doença
Feminino
Genótipo
Seres Humanos
Estudos Longitudinais
Masculino
Testes Neuropsicológicos
Medição de Risco
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apolipoprotein E4)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170924
[St] Status:MEDLINE
[do] DOI:10.1002/ana.25029


  10 / 1409 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28892061
[Au] Autor:Gazal S; Finucane HK; Furlotte NA; Loh PR; Palamara PF; Liu X; Schoech A; Bulik-Sullivan B; Neale BM; Gusev A; Price AL
[Ad] Endereço:Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
[Ti] Título:Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.
[So] Source:Nat Genet;49(10):1421-1427, 2017 Oct.
[Is] ISSN:1546-1718
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Recent work has hinted at the linkage disequilibrium (LD)-dependent architecture of human complex traits, where SNPs with low levels of LD (LLD) have larger per-SNP heritability. Here we analyzed summary statistics from 56 complex traits (average N = 101,401) by extending stratified LD score regression to continuous annotations. We determined that SNPs with low LLD have significantly larger per-SNP heritability and that roughly half of this effect can be explained by functional annotations negatively correlated with LLD, such as DNase I hypersensitivity sites (DHSs). The remaining signal is largely driven by our finding that more recent common variants tend to have lower LLD and to explain more heritability (P = 2.38 × 10 ); the youngest 20% of common SNPs explain 3.9 times more heritability than the oldest 20%, consistent with the action of negative selection. We also inferred jointly significant effects of other LD-related annotations and confirmed via forward simulations that they jointly predict deleterious effects.
[Mh] Termos MeSH primário: Variação Genética/genética
Desequilíbrio de Ligação
Herança Multifatorial/genética
Polimorfismo de Nucleotídeo Único
Seleção Genética
[Mh] Termos MeSH secundário: Alelos
Distribuição de Qui-Quadrado
Conjuntos de Dados como Assunto
Aptidão Genética
Seres Humanos
Modelos Genéticos
Anotação de Sequência Molecular
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170912
[St] Status:MEDLINE
[do] DOI:10.1038/ng.3954



página 1 de 141 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde