SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Petersen Ron) "

Sökning: WFRF:(Petersen Ron)

  • Resultat 1-9 av 9
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Deming, Yuetiva, et al. (författare)
  • Sex-specific genetic predictors of Alzheimer’s disease biomarkers
  • 2018
  • Ingår i: Acta Neuropathologica. - : Springer. - 0001-6322. ; 136:6, s. 857-872
  • Tidskriftsartikel (refereegranskat)abstract
    • Cerebrospinal fluid (CSF) levels of amyloid-β 42 (Aβ42) and tau have been evaluated as endophenotypes in Alzheimer’s disease (AD) genetic studies. Although there are sex differences in AD risk, sex differences have not been evaluated in genetic studies of AD endophenotypes. We performed sex-stratified and sex interaction genetic analyses of CSF biomarkers to identify sex-specific associations. Data came from a previous genome-wide association study (GWAS) of CSF Aβ42 and tau (1527 males, 1509 females). We evaluated sex interactions at previous loci, performed sex-stratified GWAS to identify sex-specific associations, and evaluated sex interactions at sex-specific GWAS loci. We then evaluated sex-specific associations between prefrontal cortex (PFC) gene expression at relevant loci and autopsy measures of plaques and tangles using data from the Religious Orders Study and Rush Memory and Aging Project. In Aβ42, we observed sex interactions at one previous and one novel locus: rs316341 within SERPINB1 (p = 0.04) and rs13115400 near LINC00290 (p = 0.002). These loci showed stronger associations among females (β = − 0.03, p = 4.25 × 10−8; β = 0.03, p = 3.97 × 10−8) than males (β = − 0.02, p = 0.009; β = 0.01, p = 0.20). Higher levels of expression of SERPINB1, SERPINB6, and SERPINB9 in PFC was associated with higher levels of amyloidosis among females (corrected p values < 0.02) but not males (p > 0.38). In total tau, we observed a sex interaction at a previous locus, rs1393060 proximal to GMNC (p = 0.004), driven by a stronger association among females (β = 0.05, p = 4.57 × 10−10) compared to males (β = 0.02, p = 0.03). There was also a sex-specific association between rs1393060 and tangle density at autopsy (pfemale = 0.047; pmale = 0.96), and higher levels of expression of two genes within this locus were associated with lower tangle density among females (OSTN p = 0.006; CLDN16 p = 0.002) but not males (p ≥ 0.32). Results suggest a female-specific role for SERPINB1 in amyloidosis and for OSTN and CLDN16 in tau pathology. Sex-specific genetic analyses may improve understanding of AD’s genetic architecture.
  •  
2.
  • Do, Ron, et al. (författare)
  • Common variants associated with plasma triglycerides and risk for coronary artery disease
  • 2013
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1546-1718 .- 1061-4036. ; 45:11, s. 1345-1345
  • Tidskriftsartikel (refereegranskat)abstract
    • Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P < 5 x 10(-8) for each) to examine the role of triglycerides in risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglyceride levels, and we show that the direction and magnitude of the associations with both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD.
  •  
3.
  • Naylor, Mary D, et al. (författare)
  • Advancing Alzheimer's disease diagnosis, treatment, and care: recommendations from the Ware Invitational Summit.
  • 2012
  • Ingår i: Alzheimer's & dementia : the journal of the Alzheimer's Association. - 1552-5279. ; 8:5, s. 445-52
  • Tidskriftsartikel (refereegranskat)abstract
    • To address the pending public health crisis due to Alzheimer's disease (AD) and related neurodegenerative disorders, the Marian S. Ware Alzheimer Program at the University of Pennsylvania held a meeting entitled "State of the Science Conference on the Advancement of Alzheimer's Diagnosis, Treatment and Care," on June 21-22, 2012. The meeting comprised four workgroups focusing on Biomarkers; Clinical Care and Health Services Research; Drug Development; and Health Economics, Policy, and Ethics. The workgroups shared, discussed, and compiled an integrated set of priorities, recommendations, and action plans, which are presented in this article.
  •  
4.
  •  
5.
  • Willer, Cristen J., et al. (författare)
  • Discovery and refinement of loci associated with lipid levels
  • 2013
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 45:11, s. 1274-1283
  • Tidskriftsartikel (refereegranskat)abstract
    • Levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for coronary artery disease. To identify new loci and refine known loci influencing these lipids, we examined 188,577 individuals using genome-wide and custom genotyping arrays. We identify and annotate 157 loci associated with lipid levels at P < 5 x 10(-8), including 62 loci not previously associated with lipid levels in humans. Using dense genotyping in individuals of European, East Asian, South Asian and African ancestry, we narrow association signals in 12 loci. We find that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index. Our results demonstrate the value of using genetic data from individuals of diverse ancestry and provide insights into the biological mechanisms regulating blood lipids to guide future genetic, biological and therapeutic research.
  •  
6.
  • Daneshjou, Roxana, et al. (författare)
  • Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
  • 2017
  • Ingår i: Human Mutation. - : John Wiley & Sons Inc.. - 1059-7794. ; 38:9, s. 1182-1192
  • Tidskriftsartikel (refereegranskat)abstract
    • Precision medicine aims to predict a patient's disease risk and best therapeutic options by using that individual's genetic sequencing data. The Critical Assessment of Genome Interpretation (CAGI) is a community experiment consisting of genotype-phenotype prediction challenges; participants build models, undergo assessment, and share key findings. For CAGI 4, three challenges involved using exome-sequencing data: Crohn's disease, bipolar disorder, and warfarin dosing. Previous CAGI challenges included prior versions of the Crohn's disease challenge. Here, we discuss the range of techniques used for phenotype prediction as well as the methods used for assessing predictive models. Additionally, we outline some of the difficulties associated with making predictions and evaluating them. The lessons learned from the exome challenges can be applied to both research and clinical efforts to improve phenotype prediction from genotype. In addition, these challenges serve as a vehicle for sharing clinical and research exome data in a secure manner with scientists who have a broad range of expertise, contributing to a collaborative effort to advance our understanding of genotype-phenotype relationships.
  •  
7.
  • Eljamel, Sarah, et al. (författare)
  • Comparison of intraoperative fluorescence and MRI image guided neuronavigation in malignant brain tumours, a prospective controlled study
  • 2013
  • Ingår i: Photodiagnosis and Photodynamic Therapy. - : Elsevier. - 1572-1000 .- 1873-1597. ; 10:4, s. 356-361
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: MBT carry poor prognosis and more than 80% of MBT recur locally within 2 cm of the resection margin because of inadequate surgical removal. A number of techniques have been implemented in recent years to improve surgical removal of MBT with variable success. We examined two methods commonly used to resect MBT to establish which one offered the best chances of gross total removal; MRI guided technology and ALA-induced fluorescence. Patients and methods: Twenty consecutive patients diagnosed with MBT were included in this study. They were given 20 mg ALA per kg body weight 3 h before anaesthesia orally mixed in water. Surgery was planned using preoperative enhanced MPR age images. Surgery was executed using the Stealth Station image guidance system and ALA-induced fluorescence microsurgical techniques. During surgery the intensity of fluorescence was graded into red, pink or blue. The intensity of fluorescence was also measured using pulsed 405 nm laser and a compact spectrometer using a touch probe directly placed on the tissue. The extent of tumour invasion was assessed intraoperatively using standard white light, blue light and spectroscopic measurements. Postoperative enhanced MRI was used to assess the extent of resection and the volume of residual tumour was measured. Results: There were six newly diagnosed GBM, eight recurrent GBM, one oligodendroglioma (ODG) and five metastases (MET). On enhanced MRI, the mean diameter of new GBM, recurrent GBM, ODG and MET was 2.3 cm, 2.3 cm, 1.5 cm, and 2.3 cm respectively. Under the blue light, the mean diameter of new GBM, recurrent GBM, ODG and MET was 2.9 cm, 3 cm, 1.5 cm and 2.3 cm respectively. The results of quantitative measurements of fluorescence ratios revealed that red fluorescence corresponded to 5.9-11.6 (solid tumour on histology), and pink fluorescence measured 0.8-1.9 (infiltrating edge of tumour on histology). When we compared the maximum tumour diameter of GBM we found on average it was 10 mm wider on spectroscopy compared to standard white light microscopy and 6 mm wider than what the enhanced MRI demonstrated. Conclusions: Fluorescence technology revealed that GBMs are wider than the enhanced MRI had demonstrated, while MET enhanced MRI was similar in size to fluorescence. Furthermore, solid tumour can be identified intraoperatively and can be measured using fluorescence and spectroscopy techniques and it can be removed safely. Infiltrating tumour can also be identified intraoperatively using this technology and can be removed in non-eloquent areas to maximise surgical resection.
  •  
8.
  •  
9.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-9 av 9

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy