LIVIVO - Search results -

Search results

Result 1 - 10 of total 41

Search options

Article ; Online: Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa, Ryan S / Burren, Oliver S / Sun, Benjamin B / Prins, Bram P / Matelska, Dorota / Wheeler, Eleanor / Mitchell, Jonathan / Oerton, Erin / Hristova, Ventzislava A / Smith, Katherine R / Carss, Keren / Wasilewski, Sebastian / Harper, Andrew R / Paul, Dirk S / Fabre, Margarete A / Runz, Heiko / Viollet, Coralie / Challis, Benjamin / Platt, Adam /

Vitsios, Dimitrios / Ashley, Euan A / Whelan, Christopher D / Pangalos, Menelas N / Wang, Quanli / Petrovski, Slavé

Nature

2023 Volume 622, Issue 7982, Page(s) 339–347

Abstract: Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug ... ...

Abstract	Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug targets
MeSH term(s)	Humans ; Alleles ; Biological Specimen Banks ; Biomarkers/blood ; Blood Proteins/analysis ; Blood Proteins/genetics ; Databases, Factual ; Exome/genetics ; Genetic Association Studies ; Genomics ; Hematopoiesis ; Mutation ; Plasma/chemistry ; Proteomics ; United Kingdom
Chemical Substances	Biomarkers ; Blood Proteins ; FLT3 protein, human (EC 2.7.10.1) ; HSD17B13 protein, human (EC 1.1.-.-) ; NLRC4 protein, human ; STAB1 protein, human ; STAB2 protein, human ; TET2 protein, human (EC 1.13.11.-)
Language	English
Publishing date	2023-10-04
Publishing country	England
Document type	Journal Article
ZDB-ID	120714-3
ISSN	1476-4687 ; 0028-0836
ISSN (online)	1476-4687
ISSN	0028-0836
DOI	10.1038/s41586-023-06547-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 26: 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)
Zs.MG 9: Show issues
Zs.MO 244: Show issues

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study.

Sleiman, Patrick M / Qu, Hui-Qi / Connolly, John J / Mentch, Frank / Pereira, Alexandre / Lotufo, Paulo A / Tollman, Stephen / Choudhury, Ananyo / Ramsay, Michele / Kato, Norihiro / Ozaki, Kouichi / Mitsumori, Risa / Jeon, Jae-Pil / Hong, Chang Hyung / Son, Sang Joon / Roh, Hyun Woong / Lee, Dong-Gi / Mukadam, Naaheed / Foote, Isabelle F /

Marshall, Charles R / Butterworth, Adam / Prins, Bram P / Glessner, Joseph T / Hakonarson, Hakon

Alzheimer's & dementia : the journal of the Alzheimer's Association

2023 Volume 19, Issue 12, Page(s) 5765–5772

Abstract: Background: As a collaboration model between the International HundredK+ Cohorts Consortium (IHCC) and the Davos Alzheimer's Collaborative (DAC), our aim was to develop a trans-ethnic genomic informed risk assessment (GIRA) algorithm for Alzheimer's ... ...

Abstract	Background: As a collaboration model between the International HundredK+ Cohorts Consortium (IHCC) and the Davos Alzheimer's Collaborative (DAC), our aim was to develop a trans-ethnic genomic informed risk assessment (GIRA) algorithm for Alzheimer's disease (AD). Methods: The GIRA model was created to include polygenic risk score calculated from the AD genome-wide association study loci, the apolipoprotein E haplotypes, and non-genetic covariates including age, sex, and the first three principal components of population substructure. Results: We validated the performance of the GIRA model in different populations. The proteomic study in the participant sites identified proteins related to female infertility and autoimmune thyroiditis and associated with the risk scores of AD. Conclusions: As the initial effort by the IHCC to leverage existing large-scale datasets in a collaborative setting with DAC, we developed a trans-ethnic GIRA for AD with the potential of identifying individuals at high risk of developing AD for future clinical applications.
MeSH term(s)	Humans ; Female ; Alzheimer Disease/genetics ; Alzheimer Disease/epidemiology ; Genome-Wide Association Study ; Proteomics ; Genomics ; Risk Assessment
Language	English
Publishing date	2023-07-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	2211627-8
ISSN	1552-5279 ; 1552-5260
ISSN (online)	1552-5279
ISSN	1552-5260
DOI	10.1002/alz.13378
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 6316: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 540: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: lodGWAS: a software package for genome-wide association analysis of biomarkers with a limit of detection.

Vaez, Ahmad / van der Most, Peter J / Prins, Bram P / Snieder, Harold / van den Heuvel, Edwin / Alizadeh, Behrooz Z / Nolte, Ilja M

Bioinformatics (Oxford, England)

2016 Volume 32, Issue 10, Page(s) 1552–1554

Abstract: Unlabelled: Genome-wide association study (GWAS) of a biomarker is complicated when the assay procedure of the biomarker is restricted by a Limit of Detection (LOD). Those observations falling outside the LOD cannot be simply discarded, but should be ... ...

Abstract	Unlabelled: Genome-wide association study (GWAS) of a biomarker is complicated when the assay procedure of the biomarker is restricted by a Limit of Detection (LOD). Those observations falling outside the LOD cannot be simply discarded, but should be included into the analysis by applying an appropriate statistical method. However, the problem of LOD in GWAS analysis of such biomarkers is usually overlooked. 'lodGWAS' is a flexible, easy-to-use R package that provides a simple and elegant way for GWAS analysis of such biomarkers while simultaneously accommodating the problem of LOD by applying a parametric survival analysis method. Availability and implementation: http://cran.r-project.org/web/packages/lodGWAS CONTACTS: a.vaez@umcg.nl or i.m.nolte@umcg.nl Supplementary information: Supplementary data are available at Bioinformatics online.
MeSH term(s)	Biomarkers ; Genome-Wide Association Study/methods ; Humans ; Limit of Detection ; Software
Chemical Substances	Biomarkers
Language	English
Publishing date	2016-05-15
Publishing country	England
Document type	Journal Article
ZDB-ID	1422668-6
ISSN	1367-4811 ; 1367-4803
ISSN (online)	1367-4811
ISSN	1367-4803
DOI	10.1093/bioinformatics/btw021
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2374: 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)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Genetics of coronary artery disease: Genome-wide association studies and beyond

Prins, Bram P / Lagou, Vasiliki / Asselbergs, Folkert W / Snieder, Harold / Fu, Jingyuan

Atherosclerosis. 2012 Nov., v. 225, no. 1

2012

Abstract: Genome-wide association (GWA) studies on coronary artery disease (CAD) have been very successful, identifying a total of 32 susceptibility loci so far. Although these loci have provided valuable insights into the etiology of CAD, their cumulative effect ... ...

Abstract	Genome-wide association (GWA) studies on coronary artery disease (CAD) have been very successful, identifying a total of 32 susceptibility loci so far. Although these loci have provided valuable insights into the etiology of CAD, their cumulative effect explains surprisingly little of the total CAD heritability. In this review, we first highlight and describe the type of genetic variants potentially underlying the missing heritability of CAD: single nucleotide polymorphisms (SNPs) or structural variants, each of which may either be common or rare. Although finding missing heritability is important, we further argue in this review that it constitutes only a first step towards a fuller understanding of the etiology of CAD development. To close the gap between the genotype and phenotype, we propose a systems genetics approach in the post-GWA study era. This approach that integrates genetic, epigenetic, transcriptomic, proteomic, metabolic and intermediate outcome variables has potential to significantly aid the understanding of CAD etiology.
Keywords	atherosclerosis ; coronary artery disease ; epigenetics ; etiology ; genotype ; heritability ; loci ; phenotype ; proteomics ; single nucleotide polymorphism ; transcriptomics
Language	English
Dates of publication	2012-11
Size	p. 1-10.
Publishing place	Elsevier Ireland Ltd
Document type	Article
ZDB-ID	80061-2
ISSN	1879-1484 ; 0021-9150
ISSN (online)	1879-1484
ISSN	0021-9150
DOI	10.1016/j.atherosclerosis.2012.05.015
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 78/503: Show issues

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- See ZB MED holdings
- Order with fees

Article: lodGWAS: a software package for genome-wide association analysis of biomarkers with a limit of detection

Vaez, Ahmad / van der Most, Peter J / Prins, Bram P / Snieder, Harold / van den Heuvel, Edwin / Alizadeh, Behrooz Z / Nolte, Ilja M

Bioinformatics. 2016 May 15, v. 32, no. 10

2016

Abstract: Summary: Genome-wide association study (GWAS) of a biomarker is complicated when the assay procedure of the biomarker is restricted by a Limit of Detection (LOD). Those observations falling outside the LOD cannot be simply discarded, but should be ... ...

Abstract	Summary: Genome-wide association study (GWAS) of a biomarker is complicated when the assay procedure of the biomarker is restricted by a Limit of Detection (LOD). Those observations falling outside the LOD cannot be simply discarded, but should be included into the analysis by applying an appropriate statistical method. However, the problem of LOD in GWAS analysis of such biomarkers is usually overlooked. ‘lodGWAS’ is a flexible, easy-to-use R package that provides a simple and elegant way for GWAS analysis of such biomarkers while simultaneously accommodating the problem of LOD by applying a parametric survival analysis method. Availability and implementation: http://cran.r-project.org/web/packages/lodGWAS Contacts: a.vaez@umcg.nl or i.m.nolte@umcg.nl Supplementary information: Supplementary data are available at Bioinformatics online.
Keywords	bioinformatics ; biomarkers ; computer software ; detection limit ; genome-wide association study
Language	English
Dates of publication	2016-0515
Size	p. 1552-1554.
Publishing place	Oxford University Press
Document type	Article
ZDB-ID	1468345-3
ISSN	1460-2059 ; 1367-4803
ISSN (online)	1460-2059
ISSN	1367-4803
DOI	10.1093/bioinformatics/btw021
Database	NAL-Catalogue (AGRICOLA)

Order via subito

Article ; Online: Genetics of coronary artery disease: genome-wide association studies and beyond.

Prins, Bram P / Lagou, Vasiliki / Asselbergs, Folkert W / Snieder, Harold / Fu, Jingyuan

Atherosclerosis

2012 Volume 225, Issue 1, Page(s) 1–10

Abstract	Genome-wide association (GWA) studies on coronary artery disease (CAD) have been very successful, identifying a total of 32 susceptibility loci so far. Although these loci have provided valuable insights into the etiology of CAD, their cumulative effect explains surprisingly little of the total CAD heritability. In this review, we first highlight and describe the type of genetic variants potentially underlying the missing heritability of CAD: single nucleotide polymorphisms (SNPs) or structural variants, each of which may either be common or rare. Although finding missing heritability is important, we further argue in this review that it constitutes only a first step towards a fuller understanding of the etiology of CAD development. To close the gap between the genotype and phenotype, we propose a systems genetics approach in the post-GWA study era. This approach that integrates genetic, epigenetic, transcriptomic, proteomic, metabolic and intermediate outcome variables has potential to significantly aid the understanding of CAD etiology.
MeSH term(s)	Coronary Artery Disease/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Phenotype ; Polymorphism, Single Nucleotide ; Proteomics ; Quantitative Trait Loci ; Risk ; Systems Biology
Language	English
Publishing date	2012-11
Publishing country	Ireland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80061-2
ISSN	1879-1484 ; 0021-9150
ISSN (online)	1879-1484
ISSN	0021-9150
DOI	10.1016/j.atherosclerosis.2012.05.015
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 226: 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)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: QCGWAS: A flexible R package for automated quality control of genome-wide association results.

van der Most, Peter J / Vaez, Ahmad / Prins, Bram P / Munoz, M Loretto / Snieder, Harold / Alizadeh, Behrooz Z / Nolte, Ilja M

Bioinformatics (Oxford, England)

2014 Volume 30, Issue 8, Page(s) 1185–1186

Abstract: QCGWAS is an R package that automates the quality control of genome-wide association result files. Its main purpose is to facilitate the quality control of a large number of such files before meta-analysis. Alternatively, it can be used by individual ... ...

Abstract	QCGWAS is an R package that automates the quality control of genome-wide association result files. Its main purpose is to facilitate the quality control of a large number of such files before meta-analysis. Alternatively, it can be used by individual cohorts to check their own result files. QCGWAS is flexible and has a wide range of options, allowing rapid generation of high-quality input files for meta-analysis of genome-wide association studies. Availability: http://cran.r-project.org/web/packages/QCGWAS CONTACT: i.m.nolte@umcg.nl Supplementary information: Supplementary data are available at Bioinformatics online.
MeSH term(s)	Computational Biology/methods ; Genome-Wide Association Study ; Humans ; Quality Control ; Software
Language	English
Publishing date	2014-04-15
Publishing country	England
Document type	Journal Article
ZDB-ID	1422668-6
ISSN	1367-4811 ; 1367-4803
ISSN (online)	1367-4811
ISSN	1367-4803
DOI	10.1093/bioinformatics/btt745
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2374: 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)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Neurology-related protein biomarkers are associated with cognitive ability and brain volume in older age.

Harris, Sarah E / Cox, Simon R / Bell, Steven / Marioni, Riccardo E / Prins, Bram P / Pattie, Alison / Corley, Janie / Muñoz Maniega, Susana / Valdés Hernández, Maria / Morris, Zoe / John, Sally / Bronson, Paola G / Tucker-Drob, Elliot M / Starr, John M / Bastin, Mark E / Wardlaw, Joanna M / Butterworth, Adam S / Deary, Ian J

Nature communications

2020 Volume 11, Issue 1, Page(s) 800

Abstract: Identifying biological correlates of late life cognitive function is important if we are to ascertain biomarkers for, and develop treatments to help reduce, age-related cognitive decline. Here, we investigated the associations between plasma levels of 90 ...

Abstract	Identifying biological correlates of late life cognitive function is important if we are to ascertain biomarkers for, and develop treatments to help reduce, age-related cognitive decline. Here, we investigated the associations between plasma levels of 90 neurology-related proteins (Olink® Proteomics) and general fluid cognitive ability in the Lothian Birth Cohort 1936 (LBC1936, N = 798), Lothian Birth Cohort 1921 (LBC1921, N = 165), and the INTERVAL BioResource (N = 4451). In the LBC1936, 22 of the proteins were significantly associated with general fluid cognitive ability (β between -0.11 and -0.17). MRI-assessed total brain volume partially mediated the association between 10 of these proteins and general fluid cognitive ability. In an age-matched subsample of INTERVAL, effect sizes for the 22 proteins, although smaller, were all in the same direction as in LBC1936. Plasma levels of a number of neurology-related proteins are associated with general fluid cognitive ability in later life, mediated by brain volume in some cases.
MeSH term(s)	Aged ; Aged, 80 and over ; Aging ; Biomarkers/blood ; Biomarkers/metabolism ; Brain/diagnostic imaging ; Brain/metabolism ; Brain/pathology ; Cognition/physiology ; Female ; Humans ; Male ; Nerve Tissue Proteins/blood ; Nerve Tissue Proteins/metabolism ; Proteomics
Chemical Substances	Biomarkers ; Nerve Tissue Proteins
Language	English
Publishing date	2020-02-10
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; 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/s41467-019-14161-7
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Genome-wide analysis of health-related biomarkers in the UK Household Longitudinal Study reveals novel associations.

Prins, Bram P / Kuchenbaecker, Karoline B / Bao, Yanchun / Smart, Melissa / Zabaneh, Delilah / Fatemifar, Ghazaleh / Luan, Jian'an / Wareham, Nick J / Scott, Robert A / Perry, John R B / Langenberg, Claudia / Benzeval, Michaela / Kumari, Meena / Zeggini, Eleftheria

Scientific reports

2017 Volume 7, Issue 1, Page(s) 11008

Abstract: Serum biomarker levels are associated with the risk of complex diseases. Here, we aimed to gain insights into the genetic architecture of biomarker traits which can reflect health status. We performed genome-wide association analyses for twenty serum ... ...

Abstract	Serum biomarker levels are associated with the risk of complex diseases. Here, we aimed to gain insights into the genetic architecture of biomarker traits which can reflect health status. We performed genome-wide association analyses for twenty serum biomarkers involved in organ function and reproductive health. 9,961 individuals from the UK Household Longitudinal Study were genotyped using the Illumina HumanCoreExome array and variants imputed to the 1000 Genomes Project and UK10K haplotypes. We establish a polygenic heritability for all biomarkers, confirm associations of fifty-four established loci, and identify five novel, replicating associations at genome-wide significance. A low-frequency variant, rs28929474, (beta = 0.04, P = 2 × 10
MeSH term(s)	Biomarkers/blood ; Family Characteristics ; Family Health ; Genetic Markers ; Genome-Wide Association Study ; Health Status ; Longitudinal Studies ; Reproductive Health ; United Kingdom
Chemical Substances	Biomarkers ; Genetic Markers
Language	English
Publishing date	2017-09-08
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-017-10812-1
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Beyond genome-wide association studies: new strategies for identifying genetic determinants of hypertension.

Wang, Xiaoling / Prins, Bram P / Sõber, Siim / Laan, Maris / Snieder, Harold

Current hypertension reports

2011 Volume 13, Issue 6, Page(s) 442–451

Abstract: Genetic linkage and association methods have long been the most important tools for gene identification in humans. These approaches can either be hypothesis-based (i.e., candidate-gene studies) or hypothesis-free (i.e., genome-wide studies). The first ... ...

Abstract	Genetic linkage and association methods have long been the most important tools for gene identification in humans. These approaches can either be hypothesis-based (i.e., candidate-gene studies) or hypothesis-free (i.e., genome-wide studies). The first part of this review offers an overview of the latest successes in gene finding for blood pressure (BP) and essential hypertension using these DNA sequence-based discovery techniques. We further emphasize the importance of post-genome-wide association study (post-GWAS) analysis, which aims to prioritize genetic variants for functional follow-up. Whole-genome next-generation sequencing will eventually be necessary to provide a more comprehensive picture of all DNA variants affecting BP and hypertension. The second part of this review discusses promising novel approaches that move beyond the DNA sequence and aim to discover BP genes that are differentially regulated by epigenetic mechanisms, including microRNAs, histone modification, and methylation.
MeSH term(s)	Blood Pressure ; Epigenesis, Genetic ; Genetic Linkage ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Hypertension/epidemiology ; Hypertension/genetics ; MicroRNAs ; Polymorphism, Single Nucleotide ; Time Factors ; United States/epidemiology
Chemical Substances	MicroRNAs
Language	English
Publishing date	2011-09-28
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2057367-4
ISSN	1534-3111 ; 1522-6417
ISSN (online)	1534-3111
ISSN	1522-6417
DOI	10.1007/s11906-011-0230-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 5522: 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)

Order via subito

Details ▾

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito