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Artikel ; Online: Evaluating the consent preferences of UK research volunteers for genetic and clinical studies.

Susan E Kelly / Timothy D Spector / Lynn F Cherkas / Barbara Prainsack / Juliette M Harris

PLoS ONE, Vol 10, Iss 3, p e

2015 Band 0118027

Abstract: To establish the views of research volunteers on the consent process; to explore their views on the consent process in different research scenarios; to inform debate on emerging models of consent for participation in research.2,308 adult volunteers from ... ...

Abstract	To establish the views of research volunteers on the consent process; to explore their views on the consent process in different research scenarios; to inform debate on emerging models of consent for participation in research.2,308 adult volunteers from the TwinsUK Registry (www.twinsuk.ac.uk) completed an online survey about their views on the consent process for use of their DNA and medical information in research. Their views on the re-consenting process in different scenarios were assessed.The majority of volunteers preferred to be informed of the identity of the main researcher of a study in which they are participating, which is contrary to current practice. Over 80% were willing to complete the consent process online instead of face to face. On the whole, respondents did not view their DNA differently from their medical information with regard to the consent process. Research participants were more willing to give broad consent to cover future research if their DNA was to be used by the original researcher than by another researcher, even if the disease under investigation varied, in contrast to the traditional 'gold standard' whereby specific consent is required for all new research projects.In some scenarios, research participants reported that they would be comfortable with not signing a new consent form for future research uses of their data and DNA, and are comfortable with secure, online consent processes rather than traditional face-to-face consent processes. Our findings indicate that the perceived relationship between research participants and researchers plays an important role in shaping preferences regarding the consent process and suggest that this relationship is not captured by traditional consent processes. We argue that the development of new formats of consent should be informed by empirical research on volunteers' perceptions and preferences regarding the consent process.
Schlagwörter	Medicine ; R ; Science ; Q
Thema/Rubrik (Code)	170
Sprache	Englisch
Erscheinungsdatum	2015-01-01T00:00:00Z
Verlag	Public Library of Science (PLoS)
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: Distinct clinical symptom patterns in patients hospitalised with COVID-19 in an analysis of 59,011 patients in the ISARIC-4C study

Scientific Reports, Vol 12, Iss 1, Pp 1-

2022 Band 13

Abstract: Abstract COVID-19 is clinically characterised by fever, cough, and dyspnoea. Symptoms affecting other organ systems have been reported. However, it is the clinical associations of different patterns of symptoms which influence diagnostic and therapeutic ... ...

Abstract	Abstract COVID-19 is clinically characterised by fever, cough, and dyspnoea. Symptoms affecting other organ systems have been reported. However, it is the clinical associations of different patterns of symptoms which influence diagnostic and therapeutic decision-making. In this study, we applied clustering techniques to a large prospective cohort of hospitalised patients with COVID-19 to identify clinically meaningful sub-phenotypes. We obtained structured clinical data on 59,011 patients in the UK (the ISARIC Coronavirus Clinical Characterisation Consortium, 4C) and used a principled, unsupervised clustering approach to partition the first 25,477 cases according to symptoms reported at recruitment. We validated our findings in a second group of 33,534 cases recruited to ISARIC-4C, and in 4,445 cases recruited to a separate study of community cases. Unsupervised clustering identified distinct sub-phenotypes. First, a core symptom set of fever, cough, and dyspnoea, which co-occurred with additional symptoms in three further patterns: fatigue and confusion, diarrhoea and vomiting, or productive cough. Presentations with a single reported symptom of dyspnoea or confusion were also identified, alongside a sub-phenotype of patients reporting few or no symptoms. Patients presenting with gastrointestinal symptoms were more commonly female, had a longer duration of symptoms before presentation, and had lower 30-day mortality. Patients presenting with confusion, with or without core symptoms, were older and had a higher unadjusted mortality. Symptom sub-phenotypes were highly consistent in replication analysis within the ISARIC-4C study. Similar patterns were externally verified in patients from a study of self-reported symptoms of mild disease. The large scale of the ISARIC-4C study enabled robust, granular discovery and replication. Clinical interpretation is necessary to determine which of these observations have practical utility. We propose that four sub-phenotypes are usefully distinct from the core symptom group: ...
Schlagwörter	Medicine ; R ; Science ; Q
Sprache	Englisch
Erscheinungsdatum	2022-04-01T00:00:00Z
Verlag	Nature Portfolio
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: Estrogen and COVID-19 symptoms

Ricardo Costeira / Karla A Lee / Benjamin Murray / Colette Christiansen / Juan Castillo-Fernandez / Mary Ni Lochlainn / Joan Capdevila Pujol / Heather Macfarlane / Louise C Kenny / Iain Buchan / Jonathan Wolf / Janice Rymer / Sebastien Ourselin / Claire J Steves / Timothy D Spector / Louise R Newson / Jordana T Bell

PLoS ONE, Vol 16, Iss 9, p e

Associations in women from the COVID Symptom Study.

2021 Band 0257051

Abstract: It has been widely observed that adult men of all ages are at higher risk of developing serious complications from COVID-19 when compared with women. This study aimed to investigate the association of COVID-19 positivity and severity with estrogen ... ...

Abstract	It has been widely observed that adult men of all ages are at higher risk of developing serious complications from COVID-19 when compared with women. This study aimed to investigate the association of COVID-19 positivity and severity with estrogen exposure in women, in a population based matched cohort study of female users of the COVID Symptom Study application in the UK. Analyses included 152,637 women for menopausal status, 295,689 women for exogenous estrogen intake in the form of the combined oral contraceptive pill (COCP), and 151,193 menopausal women for hormone replacement therapy (HRT). Data were collected using the COVID Symptom Study in May-June 2020. Analyses investigated associations between predicted or tested COVID-19 status and menopausal status, COCP use, and HRT use, adjusting for age, smoking and BMI, with follow-up age sensitivity analysis, and validation in a subset of participants from the TwinsUK cohort. Menopausal women had higher rates of predicted COVID-19 (P = 0.003). COCP-users had lower rates of predicted COVID-19 (P = 8.03E-05), with reduction in hospital attendance (P = 0.023). Menopausal women using HRT or hormonal therapies did not exhibit consistent associations, including increased rates of predicted COVID-19 (P = 2.22E-05) for HRT users alone. The findings support a protective effect of estrogen exposure on COVID-19, based on positive association between predicted COVID-19 with menopausal status, and negative association with COCP use. HRT use was positively associated with COVID-19, but the results should be considered with caution due to lack of data on HRT type, route of administration, duration of treatment, and potential unaccounted for confounders and comorbidities.
Schlagwörter	Medicine ; R ; Science ; Q
Thema/Rubrik (Code)	360
Sprache	Englisch
Erscheinungsdatum	2021-01-01T00:00:00Z
Verlag	Public Library of Science (PLoS)
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: Obligatory and facilitative allelic variation in the DNA methylome within common disease-associated loci

Christopher G. Bell / Fei Gao / Wei Yuan / Leonie Roos / Richard J. Acton / Yudong Xia / Jordana Bell / Kirsten Ward / Massimo Mangino / Pirro G. Hysi / Jun Wang / Timothy D. Spector

Nature Communications, Vol 9, Iss 1, Pp 1-

2018 Band 13

Abstract: Genomic polymorphisms affect the epigenome, which in turn influences how epigenome- and genome-wide analysis are interpreted. Here, the authors characterise allelic differences in DNA methylation driven by obligatory or facilitative genetic effects, ... ...

Abstract	Genomic polymorphisms affect the epigenome, which in turn influences how epigenome- and genome-wide analysis are interpreted. Here, the authors characterise allelic differences in DNA methylation driven by obligatory or facilitative genetic effects, which may affect disease-related loci.
Schlagwörter	Science ; Q
Sprache	Englisch
Erscheinungsdatum	2018-01-01T00:00:00Z
Verlag	Nature Portfolio
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: Obligatory and facilitative allelic variation in the DNA methylome within common disease-associated loci

Christopher G. Bell / Fei Gao / Wei Yuan / Leonie Roos / Richard J. Acton / Yudong Xia / Jordana Bell / Kirsten Ward / Massimo Mangino / Pirro G. Hysi / Jun Wang / Timothy D. Spector

Nature Communications, Vol 9, Iss 1, Pp 1-

2018 Band 13

Abstract	Genomic polymorphisms affect the epigenome, which in turn influences how epigenome- and genome-wide analysis are interpreted. Here, the authors characterise allelic differences in DNA methylation driven by obligatory or facilitative genetic effects, which may affect disease-related loci.
Schlagwörter	Science ; Q
Sprache	Englisch
Erscheinungsdatum	2018-01-01T00:00:00Z
Verlag	Nature Publishing Group
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: Type 1 diabetes susceptibility alleles are associated with distinct alterations in the gut microbiota

Jane A. Mullaney / Juliette E. Stephens / Mary-Ellen Costello / Cai Fong / Brooke E. Geeling / Patrick G. Gavin / Casey M. Wright / Timothy D. Spector / Matthew A. Brown / Emma E. Hamilton-Williams

Microbiome, Vol 6, Iss 1, Pp 1-

2018 Band 16

Abstract: Abstract Background Dysbiosis of the gut microbiota has been implicated in the pathogenesis of many autoimmune conditions including type 1 diabetes (T1D). It is unknown whether changes in the gut microbiota observed in T1D are due to environmental ... ...

Abstract	Abstract Background Dysbiosis of the gut microbiota has been implicated in the pathogenesis of many autoimmune conditions including type 1 diabetes (T1D). It is unknown whether changes in the gut microbiota observed in T1D are due to environmental drivers, genetic risk factors, or both. Here, we have performed an analysis of associations between the gut microbiota and T1D genetic risk using the non-obese diabetic (NOD) mouse model of T1D and the TwinsUK cohort. Results Through the analysis of five separate colonies of T1D susceptible NOD mice, we identified similarities in NOD microbiome that were independent of animal facility. Introduction of disease protective alleles at the Idd3 and Idd5 loci (IL2, Ctla4, Slc11a1, and Acadl) resulted in significant alterations in the NOD microbiome. Disease-protected strains exhibited a restoration of immune regulatory pathways within the gut which could also be reestablished using IL-2 therapy. Increased T1D disease risk from IL-2 pathway loci in the TwinsUK cohort of human subjects resulted in some similar microbiota changes to those observed in the NOD mouse. Conclusions These findings demonstrate for the first time that type 1 diabetes-associated genetic variants that restore immune tolerance to islet antigens also result in functional changes in the gut immune system and resultant changes in the microbiota.
Schlagwörter	Gut microbiota ; Type 1 diabetes ; Genetic susceptibility ; Interleukin-2 pathway ; Autoimmunity ; Microbial ecology ; QR100-130
Thema/Rubrik (Code)	616
Sprache	Englisch
Erscheinungsdatum	2018-02-01T00:00:00Z
Verlag	BMC
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: An unsupervised learning approach to identify novel signatures of health and disease from multimodal data

Genome Medicine, Vol 12, Iss 1, Pp 1-

2020 Band 14

Abstract: Abstract Background Modern medicine is rapidly moving towards a data-driven paradigm based on comprehensive multimodal health assessments. Integrated analysis of data from different modalities has the potential of uncovering novel biomarkers and disease ... ...

Abstract	Abstract Background Modern medicine is rapidly moving towards a data-driven paradigm based on comprehensive multimodal health assessments. Integrated analysis of data from different modalities has the potential of uncovering novel biomarkers and disease signatures. Methods We collected 1385 data features from diverse modalities, including metabolome, microbiome, genetics, and advanced imaging, from 1253 individuals and from a longitudinal validation cohort of 1083 individuals. We utilized a combination of unsupervised machine learning methods to identify multimodal biomarker signatures of health and disease risk. Results Our method identified a set of cardiometabolic biomarkers that goes beyond standard clinical biomarkers. Stratification of individuals based on the signatures of these biomarkers identified distinct subsets of individuals with similar health statuses. Subset membership was a better predictor for diabetes than established clinical biomarkers such as glucose, insulin resistance, and body mass index. The novel biomarkers in the diabetes signature included 1-stearoyl-2-dihomo-linolenoyl-GPC and 1-(1-enyl-palmitoyl)-2-oleoyl-GPC. Another metabolite, cinnamoylglycine, was identified as a potential biomarker for both gut microbiome health and lean mass percentage. We identified potential early signatures for hypertension and a poor metabolic health outcome. Additionally, we found novel associations between a uremic toxin, p-cresol sulfate, and the abundance of the microbiome genera Intestinimonas and an unclassified genus in the Erysipelotrichaceae family. Conclusions Our methodology and results demonstrate the potential of multimodal data integration, from the identification of novel biomarker signatures to a data-driven stratification of individuals into disease subtypes and stages—an essential step towards personalized, preventative health risk assessment.
Schlagwörter	Multimodal ; Preventative medicine ; Metabolomics ; Cardiometabolic syndrome ; Unsupervised machine learning ; Network analysis ; Medicine ; R ; Genetics ; QH426-470
Sprache	Englisch
Erscheinungsdatum	2020-01-01T00:00:00Z
Verlag	BMC
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation

Xia Shen / Lucija Klarić / Sodbo Sharapov / Massimo Mangino / Zheng Ning / Di Wu / Irena Trbojević-Akmačić / Maja Pučić-Baković / Igor Rudan / Ozren Polašek / Caroline Hayward / Timothy D. Spector / James F. Wilson / Gordan Lauc / Yurii S. Aulchenko

Nature Communications, Vol 8, Iss 1, Pp 1-

2017 Band 10

Abstract: Multivariate analysis methods can uncover the relationship between phenotypic measures characterised by modern omic techniques. Here the authors conduct a multivariate GWAS on IgG N-glycosylation phenotypes and identify 5 novel loci enriched in immune ... ...

Abstract	Multivariate analysis methods can uncover the relationship between phenotypic measures characterised by modern omic techniques. Here the authors conduct a multivariate GWAS on IgG N-glycosylation phenotypes and identify 5 novel loci enriched in immune system genes.
Schlagwörter	Science ; Q
Sprache	Englisch
Erscheinungsdatum	2017-09-01T00:00:00Z
Verlag	Nature Portfolio
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation

Nature Communications, Vol 8, Iss 1, Pp 1-

2017 Band 10

Abstract	Multivariate analysis methods can uncover the relationship between phenotypic measures characterised by modern omic techniques. Here the authors conduct a multivariate GWAS on IgG N-glycosylation phenotypes and identify 5 novel loci enriched in immune system genes.
Schlagwörter	Science ; Q
Sprache	Englisch
Erscheinungsdatum	2017-09-01T00:00:00Z
Verlag	Nature Publishing Group
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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Artikel ; Online: Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis

Carolina Medina-Gomez / Benjamin H. Mullin / Alessandra Chesi / Vid Prijatelj / John P. Kemp / Chen Shochat-Carvalho / Katerina Trajanoska / Carol Wang / Raimo Joro / Tavia E. Evans / Katharina E. Schraut / Ruifang Li-Gao / Tarunveer S. Ahluwalia / M. Carola Zillikens / Kun Zhu / Dennis O. Mook-Kanamori / Daniel S. Evans / Maria Nethander / Maria J. Knol /

Gudmar Thorleifsson / Ivana Prokic / Babette Zemel / Linda Broer / Fiona E. McGuigan / Natasja M. van Schoor / Sjur Reppe / Mikolaj A. Pawlak / Stuart H. Ralston / Nathalie van der Velde / Mattias Lorentzon / Kari Stefansson / Hieab H. H. Adams / Scott G. Wilson / M. Arfan Ikram / John P. Walsh / Timo A. Lakka / Kaare M. Gautvik / James F. Wilson / Eric S. Orwoll / Cornelia M. van Duijn / Klaus Bønnelykke / Andre G. Uitterlinden / Unnur Styrkársdóttir / Kristina E. Akesson / Timothy D. Spector / Jonathan H. Tobias / Claes Ohlsson / Janine F. Felix / Hans Bisgaard / Struan F. A. Grant / J. Brent Richards / David M. Evans / Bram van der Eerden / Jeroen van de Peppel / Cheryl Ackert-Bicknell / David Karasik / Erika Kague / Fernando Rivadeneira

Communications Biology, Vol 6, Iss 1, Pp 1-

2023 Band 12

Abstract: Abstract Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analysis ( ...

Abstract	Abstract Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analysis (n ~ 43,800) of SK-BMD, identifying 59 loci, collectively explaining 12.5% of the trait variance. Association signals cluster within gene-sets involved in skeletal development and osteoporosis. Among the four novel loci (ZIC1, PRKAR1A, AZIN1/ATP6V1C1, GLRX3), there are factors implicated in intramembranous ossification and as we show, inherent to craniosynostosis processes. Functional follow-up in zebrafish confirms the importance of ZIC1 on cranial suture patterning. Likewise, we observe abnormal cranial bone initiation that culminates in ectopic sutures and reduced BMD in mosaic atp6v1c1 knockouts. Mosaic prkar1a knockouts present asymmetric bone growth and, conversely, elevated BMD. In light of this evidence linking SK-BMD loci to craniofacial abnormalities, our study provides new insight into the pathophysiology, diagnosis and treatment of skeletal diseases.
Schlagwörter	Biology (General) ; QH301-705.5
Thema/Rubrik (Code)	616
Sprache	Englisch
Erscheinungsdatum	2023-07-01T00:00:00Z
Verlag	Nature Portfolio
Dokumenttyp	Artikel ; Online
Datenquelle	BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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