Result 1 - 10 of total 377
Medical examiner (Philadelphia, Pa.)
2023 Volume 4, Issue 17, Page(s) 263–265
| Language | English |
|---|---|
| Publishing date | 2023-12-20 |
| Publishing country | United States |
| Document type | Journal Article |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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Arteriosclerosis, thrombosis, and vascular biology
2022 Volume 42, Issue 9, Page(s) 1198–1206
Abstract: Background: The effect of genetic variation in the male-specific region of the Y chromosome (MSY) on coronary artery disease and cardiovascular risk factors has been disputed. In this study, we systematically assessed the association of MSY genetic ... ...
| Abstract | Background: The effect of genetic variation in the male-specific region of the Y chromosome (MSY) on coronary artery disease and cardiovascular risk factors has been disputed. In this study, we systematically assessed the association of MSY genetic variation on these traits using a kin-cohort analysis of family disease history in the largest sample to date. Methods: We tested 90 MSY haplogroups against coronary artery disease, hypertension, blood pressure, classical lipid levels, and all-cause mortality in up to 152 186 unrelated, genomically British individuals from UK Biobank. Unlike previous studies, we did not adjust for heritable lifestyle factors (to avoid collider bias) and instead adjusted for geographic variables and socioeconomic deprivation, given the link between MSY haplogroups and geography. For family history traits, subject MSY haplogroups were tested against father and mother disease as validation and negative control, respectively. Results: Our models find little evidence for an effect of any MSY haplogroup on cardiovascular risk in participants. Parental models confirm these findings. Conclusions: Kin-cohort analysis of the Y chromosome uniquely allows for discoveries in subjects to be validated using family history data. Despite our large sample size, improved models, and parental validation, there is little evidence to suggest cardiovascular risk in UK Biobank is influenced by genetic variation in MSY. |
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| MeSH term(s) | Biological Specimen Banks ; Chromosomes, Human, Y/genetics ; Coronary Artery Disease/genetics ; Humans ; Male ; Phenotype ; United Kingdom/epidemiology ; Y Chromosome |
| Language | English |
| Publishing date | 2022-07-14 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 1221433-4 |
| ISSN | 1524-4636 ; 1079-5642 |
| ISSN (online) | 1524-4636 |
| ISSN | 1079-5642 |
| DOI | 10.1161/ATVBAHA.122.317664 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 1705: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
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International journal of population data science
2023 Volume 8, Issue 1, Page(s) 2121
Abstract: Introduction: The purpose of VIKING II is to create an observational cohort of volunteers with ancestry from the Northern Isles of Scotland, primarily for identifying genetic variants influencing disease. The new online protocol is separate to, but ... ...
| Abstract | Introduction: The purpose of VIKING II is to create an observational cohort of volunteers with ancestry from the Northern Isles of Scotland, primarily for identifying genetic variants influencing disease. The new online protocol is separate to, but follows on from, earlier genetic epidemiological clinic-based studies in the isolated populations of Orkney and Shetland. These populations are favourable for the study of rarer genetic variants due to genetic drift, the large number of relatives, and availability of pedigree information. They are known to be genetically distinct from mainland British populations. Methods and analysis: Online methods are being used to recruit ~4,000 people who have Northern Isles ancestry, living anywhere in the world. The option for participants to have actionable genetic results returned is offered. Consent will be taken electronically. Data will be collected at baseline through an online questionnaire and longitudinally through linkage to NHS data in the electronic health record. The questionnaire collects a variety of phenotypes including personal and family health. DNA will be extracted from saliva samples then genome-wide genotyped and exome sequenced. VIKING II aims to capitalise on the special features of the Northern Isles populations to create a research cohort that will facilitate the analysis of genetic variants associated with a broad range of traits and disease endpoints, including otherwise rare variants that have drifted to high frequency in these populations. Ethics and dissemination: The South East Scotland Research Ethics Committee gave the study a favourable opinion. VIKING II is sponsored by the University of Edinburgh and NHS Lothian. Summary research findings will be disseminated to participants and funding bodies, presented at conferences and reported in peer-reviewed publications. Article summary: Strengths and limitations of this studyDetailed data and biological sample collection of research volunteers with unique ancestry.Consent for access to routinely collected clinical EHR data and for future re-contact, providing a longitudinal component.Optional consent for return of actionable genetic results.~4,000 participants is a relatively small number for certain types of genetic analyses, so the cohort is underpowered on its own, in some study designs.Resources to maintain the cohort, and to store data and DNA samples, are significant, with sustainability dependent on infrastructure support and funding. |
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| MeSH term(s) | Ambulatory Care Facilities ; Electronic Health Records ; Ethics Committees, Research ; Exome ; Family Health ; Humans |
| Language | English |
| Publishing date | 2023-05-15 |
| Publishing country | Wales |
| Document type | Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't |
| ISSN | 2399-4908 |
| ISSN (online) | 2399-4908 |
| DOI | 10.23889/ijpds.v8i1.2121 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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2023 Volume 23, Issue 1, Page(s) 65
Abstract: Background: Epstein Barr virus (EBV) infects ~ 95% of the population worldwide and is known to cause adverse health outcomes such as Hodgkin's, non-Hodgkin's lymphomas, and multiple sclerosis. There is substantial interest and investment in developing ... ...
| Abstract | Background: Epstein Barr virus (EBV) infects ~ 95% of the population worldwide and is known to cause adverse health outcomes such as Hodgkin's, non-Hodgkin's lymphomas, and multiple sclerosis. There is substantial interest and investment in developing infection-preventing vaccines for EBV. To effectively deploy such vaccines, it is vital that we understand the risk factors for infection. Why particular individuals do not become infected is currently unknown. The current literature, describes complex, often conflicting webs of intersecting factors-sociodemographic, clinical, genetic, environmental-, rendering causality difficult to decipher. We aimed to use Mendelian randomization (MR) to overcome the issues posed by confounding and reverse causality to determine the causal risk factors for the acquisition of EBV. Methods: We mapped the complex evidence from the literature prior to this study factors associated with EBV serostatus (as a proxy for infection) into a causal diagram to determine putative risk factors for our study. Using data from the UK Biobank of 8422 individuals genomically deemed to be of white British ancestry between the ages of 40 and 69 at recruitment between the years 2006 and 2010, we performed a genome wide association study (GWAS) of EBV serostatus, followed by a Two Sample MR to determine which putative risk factors were causal. Results: Our GWAS identified two novel loci associated with EBV serostatus. In MR analyses, we confirmed shorter time in education, an increase in number of sexual partners, and a lower age of smoking commencement, to be causal risk factors for EBV serostatus. Conclusions: Given the current interest and likelihood of a future EBV vaccine, these factors can inform vaccine development and deployment strategies by completing the puzzle of causality. Knowing these risk factors allows identification of those most likely to acquire EBV, giving insight into what age to vaccinate and who to prioritise when a vaccine is introduced. |
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| MeSH term(s) | Adult ; Aged ; Humans ; Middle Aged ; Epstein-Barr Virus Infections/genetics ; Epstein-Barr Virus Infections/prevention & control ; Epstein-Barr Virus Infections/epidemiology ; Genome-Wide Association Study ; Herpesvirus 4, Human/genetics ; Vaccination ; Vaccines ; Mendelian Randomization Analysis |
| Chemical Substances | Vaccines |
| Language | English |
| Publishing date | 2023-02-03 |
| Publishing country | England |
| Document type | Journal Article |
| ZDB-ID | 2041550-3 |
| ISSN | 1471-2334 ; 1471-2334 |
| ISSN (online) | 1471-2334 |
| ISSN | 1471-2334 |
| DOI | 10.1186/s12879-023-08031-3 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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European journal of preventive cardiology
2023 Volume 30, Issue 12, Page(s) 1255–1262
Abstract: Aims: To identify a group of metabolites associated with incident cardiovascular disease (CVD) in people with type 2 diabetes and assess its predictive performance over-and-above a current CVD risk score (QRISK3).: Methods and results: A panel of 228 ...
| Abstract | Aims: To identify a group of metabolites associated with incident cardiovascular disease (CVD) in people with type 2 diabetes and assess its predictive performance over-and-above a current CVD risk score (QRISK3). Methods and results: A panel of 228 serum metabolites was measured at baseline in 1066 individuals with type 2 diabetes (Edinburgh Type 2 Diabetes Study) who were then followed up for CVD over the subsequent 10 years. We applied 100 repeats of Cox least absolute shrinkage and selection operator to select metabolites with frequency >90% as components for a metabolites-based risk score (MRS). The predictive performance of the MRS was assessed in relation to a reference model that was based on QRISK3 plus prevalent CVD and statin use at baseline. Of 1021 available individuals, 255 (25.0%) developed CVD (median follow-up: 10.6 years). Twelve metabolites relating to fluid balance, ketone bodies, amino acids, fatty acids, glycolysis, and lipoproteins were selected to construct the MRS that showed positive association with 10-year cardiovascular risk following adjustment for traditional risk factors [hazard ratio (HR) 2.67; 95% confidence interval (CI) 1.96, 3.64]. The c-statistic was 0.709 (95%CI 0.679, 0.739) for the reference model alone, increasing slightly to 0.728 (95%CI 0.700, 0.757) following addition of the MRS. Compared with the reference model, the net reclassification index and integrated discrimination index for the reference model plus the MRS were 0.362 (95%CI 0.179, 0.506) and 0.041 (95%CI 0.020, 0.071), respectively. Conclusion: Metabolomics data might improve predictive performance of current CVD risk scores based on traditional risk factors in people with type 2 diabetes. External validation is warranted to assess the generalizability of improved CVD risk prediction using the MRS. |
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| MeSH term(s) | Aged ; Female ; Humans ; Male ; Middle Aged ; Biomarkers/blood ; Cardiovascular Diseases/epidemiology ; Diabetes Mellitus, Type 2/blood ; Diabetes Mellitus, Type 2/epidemiology ; Heart Disease Risk Factors ; Metabolomics ; Risk Assessment/methods ; Predictive Value of Tests |
| Chemical Substances | Biomarkers |
| Language | English |
| Publishing date | 2023-05-12 |
| Publishing country | England |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2626011-6 |
| ISSN | 2047-4881 ; 2047-4873 |
| ISSN (online) | 2047-4881 |
| ISSN | 2047-4873 |
| DOI | 10.1093/eurjpc/zwad160 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 4686: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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HGG advances
2023 Volume 4, Issue 2, Page(s) 100178
Abstract: The use of genetic and genomic technology to infer ancestry is commonplace in a variety of contexts, particularly in biomedical research and for direct-to-consumer genetic testing. In 2013 and 2015, two roundtables engaged a diverse group of stakeholders ...
| Abstract | The use of genetic and genomic technology to infer ancestry is commonplace in a variety of contexts, particularly in biomedical research and for direct-to-consumer genetic testing. In 2013 and 2015, two roundtables engaged a diverse group of stakeholders toward the development of guidelines for inferring genetic ancestry in academia and industry. This report shares the stakeholder groups' work and provides an analysis of, commentary on, and views from the groundbreaking and sustained dialogue. We describe the engagement processes and the stakeholder groups' resulting statements and proposed guidelines. The guidelines focus on five key areas: application of genetic ancestry inference, assumptions and confidence/laboratory and statistical methods, terminology and population identifiers, impact on individuals and groups, and communication or translation of genetic ancestry inferences. We delineate the terms and limitations of the guidelines and discuss their critical role in advancing the development and implementation of best practices for inferring genetic ancestry and reporting the results. These efforts should inform both governmental regulation and self-regulation. |
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| MeSH term(s) | Humans ; Biomedical Research ; Genomics ; Communication |
| Language | English |
| Publishing date | 2023-01-13 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, N.I.H., Extramural |
| ISSN | 2666-2477 |
| ISSN (online) | 2666-2477 |
| DOI | 10.1016/j.xhgg.2023.100178 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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Journal of the American Veterinary Medical Association
2012 Volume 240, Issue 7, Page(s) 803–804
| MeSH term(s) | Animals ; Education, Veterinary/economics ; Employment ; Salaries and Fringe Benefits/statistics & numerical data ; Schools, Veterinary/economics ; Students ; United States ; Veterinarians/economics ; Veterinarians/statistics & numerical data ; Veterinary Medicine/economics ; Veterinary Medicine/statistics & numerical data |
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| Language | English |
| Publishing date | 2012-04-01 |
| Publishing country | United States |
| Document type | Letter |
| ZDB-ID | 390811-2 |
| ISSN | 1943-569X ; 0003-1488 |
| ISSN (online) | 1943-569X |
| ISSN | 0003-1488 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 423: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
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2022 Volume 21, Issue 1, Page(s) 62
Abstract: Background: Atherosclerotic cardiovascular diseases (CVD) is the leading cause of death in diabetes, but the full range of biomarkers reflecting atherosclerotic burden and CVD risk in people with diabetes is unknown. Metabolomics may help identify novel ...
| Abstract | Background: Atherosclerotic cardiovascular diseases (CVD) is the leading cause of death in diabetes, but the full range of biomarkers reflecting atherosclerotic burden and CVD risk in people with diabetes is unknown. Metabolomics may help identify novel biomarkers potentially involved in development of atherosclerosis. We investigated the serum metabolomic profile of subclinical atherosclerosis, measured using ankle brachial index (ABI), in people with type 2 diabetes, compared with the profile for symptomatic CVD in the same population. Methods: The Edinburgh Type 2 Diabetes Study is a cohort of 1,066 individuals with type 2 diabetes. ABI was measured at baseline, years 4 and 10, with cardiovascular events assessed at baseline and during 10 years of follow-up. A panel of 228 metabolites was measured at baseline using nuclear magnetic resonance spectrometry, and their association with both ABI and prevalent CVD was explored using univariate regression models and least absolute shrinkage and selection operator (LASSO). Metabolites associated with baseline ABI were further explored for association with follow-up ABI and incident CVD. Results: Mean (standard deviation, SD) ABI at baseline was 0.97 (0.18, N = 1025), and prevalence of CVD was 35.0%. During 10-year follow-up, mean (SD) change in ABI was + 0.006 (0.178, n = 436), and 257 CVD events occurred. Lactate, glycerol, creatinine and glycoprotein acetyls levels were associated with baseline ABI in both univariate regression [βs (95% confidence interval, CI) ranged from - 0.025 (- 0.036, - 0.015) to - 0.023 (- 0.034, - 0.013), all p < 0.0002] and LASSO analysis. The associations remained nominally significant after adjustment for major vascular risk factors. In prospective analyses, lactate was nominally associated with ABI measured at years 4 and 10 after adjustment for baseline ABI. The four ABI-associated metabolites were all positively associated with prevalent CVD [odds ratios (ORs) ranged from 1.29 (1.13, 1.47) to 1.49 (1.29, 1.74), all p < 0.0002], and they were also positively associated with incident CVD [ORs (95% CI) ranged from 1.19 (1.02, 1.39) to 1.35 (1.17, 1.56), all p < 0.05]. Conclusions: Serum metabolites relating to glycolysis, fluid balance and inflammation were independently associated with both a marker of subclinical atherosclerosis and with symptomatic CVD in people with type 2 diabetes. Additional investigation is warranted to determine their roles as possible etiological and/or predictive biomarkers for atherosclerotic CVD. |
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| MeSH term(s) | Atherosclerosis ; Biomarkers ; Cardiovascular Diseases/complications ; Cardiovascular Diseases/diagnosis ; Cardiovascular Diseases/epidemiology ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/diagnosis ; Diabetes Mellitus, Type 2/epidemiology ; Humans ; Lactates ; Metabolomics ; Phenotype ; Prospective Studies |
| Chemical Substances | Biomarkers ; Lactates |
| Language | English |
| Publishing date | 2022-04-27 |
| Publishing country | England |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2093769-6 |
| ISSN | 1475-2840 ; 1475-2840 |
| ISSN (online) | 1475-2840 |
| ISSN | 1475-2840 |
| DOI | 10.1186/s12933-022-01493-w |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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2022 Volume 31, Issue 21, Page(s) 3643–3651
Abstract: Obesity has a highly complex genetic architecture, making it difficult to understand the genetic mechanisms, despite the large number of discovered loci via genome-wide association studies (GWAS). Omics techniques have provided a better resolution to ... ...
| Abstract | Obesity has a highly complex genetic architecture, making it difficult to understand the genetic mechanisms, despite the large number of discovered loci via genome-wide association studies (GWAS). Omics techniques have provided a better resolution to view this problem. As a proxy of cell-level biology, extracellular vesicles (EVs) are useful for studying cellular regulation of complex phenotypes such as obesity. Here, in a well-established Scottish cohort, we utilized a novel technology to detect surface proteins across millions of single EVs in each individual's plasma sample. Integrating the results with established obesity GWAS, we inferred 78 types of EVs carrying one or two of 12 surface proteins to be associated with adiposity-related traits such as waist circumference. We then verified that particular EVs' abundance is negatively correlated with body adiposity, while no association with lean body mass. We also revealed that genetic variants associated with protein-specific EVs capture 2-4-fold heritability enrichment for blood cholesterol levels. Our findings provide evidence that EVs with specific surface proteins have phenotypic and genetic links to obesity and blood lipids, respectively, guiding future EV biomarker research. |
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| MeSH term(s) | Humans ; Extracellular Vesicles/genetics ; Genome-Wide Association Study ; Membrane Proteins/genetics ; Obesity/genetics ; Phenotype |
| Chemical Substances | Membrane Proteins |
| Language | English |
| Publishing date | 2022-03-29 |
| Publishing country | England |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 1108742-0 |
| ISSN | 1460-2083 ; 0964-6906 |
| ISSN (online) | 1460-2083 |
| ISSN | 0964-6906 |
| DOI | 10.1093/hmg/ddac069 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
| Zs.A 3469: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
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2020 Volume 11, Issue 1, Page(s) 3570
Abstract: Ageing phenotypes, such as years lived in good health (healthspan), total years lived (lifespan), and survival until an exceptional old age (longevity), are of interest to us all but require exceptionally large sample sizes to study genetically. Here we ... ...
| Abstract | Ageing phenotypes, such as years lived in good health (healthspan), total years lived (lifespan), and survival until an exceptional old age (longevity), are of interest to us all but require exceptionally large sample sizes to study genetically. Here we combine existing genome-wide association summary statistics for healthspan, parental lifespan, and longevity in a multivariate framework, increasing statistical power, and identify 10 genomic loci which influence all three phenotypes, of which five (near FOXO3, SLC4A7, LINC02513, ZW10, and FGD6) have not been reported previously at genome-wide significance. The majority of these 10 loci are associated with cardiovascular disease and some affect the expression of genes known to change their activity with age. In total, we implicate 78 genes, and find these to be enriched for ageing pathways previously highlighted in model organisms, such as the response to DNA damage, apoptosis, and homeostasis. Finally, we identify a pathway worthy of further study: haem metabolism. |
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| MeSH term(s) | Aging/genetics ; Aging/metabolism ; Gene Expression ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Heme/metabolism ; Humans ; Longevity/genetics ; Multifactorial Inheritance ; Parents ; Phenotype ; Quantitative Trait Loci ; Sex Factors |
| Chemical Substances | Heme (42VZT0U6YR) |
| Language | English |
| Publishing date | 2020-07-16 |
| Publishing country | England |
| Document type | Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2553671-0 |
| ISSN | 2041-1723 ; 2041-1723 |
| ISSN (online) | 2041-1723 |
| ISSN | 2041-1723 |
| DOI | 10.1038/s41467-020-17312-3 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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