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1.
Genet Epidemiol ; 44(5): 442-468, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32115800

RESUMO

Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.


Assuntos
Neoplasias da Mama/genética , Estudo de Associação Genômica Ampla , Receptores Estrogênicos/metabolismo , Neoplasias da Mama/metabolismo , Estrogênios/metabolismo , Feminino , Predisposição Genética para Doença , Genômica , Humanos , Medição de Risco , Transcriptoma , Proteínas de Transporte Vesicular/genética
2.
Thromb Res ; 189: 48-54, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32169750

RESUMO

INTRODUCTION: Hip fracture is common among the elderly and is associated with increased morbidity and mortality, particularly when surgery is delayed. Direct oral anticoagulants (DOACs) use might increase bleeding and postpone hip repair surgery. We aimed to assess the association between preoperative DOACs use and adverse outcomes in elderly patients with hip fracture. MATERIALS AND METHODS: This retrospective cohort study included all elderly patients (≥65 years), from the district of Haifa and Western Galilee, Israel, who underwent hip repair surgery for hip fracture between 2014 and 2018. Regression models with adjustment for propensity score were used to assess the association with all-cause mortality and other adverse outcomes. RESULTS: A total of 3418 patients with hip fracture were included of whom 163 (4.8%) were vitamin K antagonists (VKAs) users and 247 (7.2%) were DOCAs users. Propensity score adjusted models revealed that, compared to no anticoagulants use, DOACs use were independently associated with decreased risk of 30-day and 90-day mortality; HR 0.38 (95% CI, 0.17-0.88) and 0.47 (0.27-0.82), respectively. No significant associations were detected between VKAs use and all-cause mortality, compared to no anticoagulants use. DOACs and VKAs had significantly longer waiting time for hip repair surgery, and longer stay in hospital. DOACs and VKAs users had a non-significant higher estimated intraoperative bleeding. However, only VKAs users required a significantly higher number of blood transfusions. CONCLUSIONS: Albeit being associated with longer waiting time for surgery and longer hospitalization, DOACs use appears to be associated with reduced risk of mortality among elderly patients with hip fracture.

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