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Article ; Online: Happiness, health, and mortality.

Stringer, Sven / Veldkamp, Coosje L S

2016 Volume 388, Issue 10039, Page(s) 26

MeSH term(s)	Female ; Happiness ; Humans ; Mortality
Language	English
Publishing date	2016-07-02
Publishing country	England
Document type	Comment ; Letter
ZDB-ID	3306-6
ISSN	1474-547X ; 0023-7507 ; 0140-6736
ISSN (online)	1474-547X
ISSN	0023-7507 ; 0140-6736
DOI	10.1016/S0140-6736(16)30894-7
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Zs.MG 94: Show issues

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Article ; Online: Author Correction: Majority of human traits do not show evidence for sex-specific genetic and environmental effects.

Stringer, Sven / Polderman, Tinca J C / Posthuma, Danielle

Scientific reports

2018 Volume 8, Issue 1, Page(s) 18060

Abstract: A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. ...

Abstract	A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
Language	English
Publishing date	2018-12-21
Publishing country	England
Document type	Published Erratum
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-018-36013-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Majority of human traits do not show evidence for sex-specific genetic and environmental effects.

Stringer, Sven / Polderman, Tinca J C / Posthuma, Danielle

Scientific reports

2017 Volume 7, Issue 1, Page(s) 8688

Abstract: Sex differences in the etiology of human trait variation are a major topic of interest in the social and medical sciences given its far-reaching implications. For example, in genetic research, the presence of sex-specific effects would require sex- ... ...

Abstract	Sex differences in the etiology of human trait variation are a major topic of interest in the social and medical sciences given its far-reaching implications. For example, in genetic research, the presence of sex-specific effects would require sex-stratified analysis, and in clinical practice sex-specific treatments would be warranted. Here, we present a study of 2,335,920 twin pairs, in which we tested sex differences in genetic and environmental contributions to variation in 2,608 reported human traits, clustered in 50 trait categories. Monozygotic and dizygotic male and female twin correlations were used to test whether the amount of genetic and environmental influences was equal between the sexes. By comparing dizygotic opposite sex twin correlations with dizygotic same sex twin correlations we could also test whether sex-specific genetic or environmental factors were involved. We observed for only 3% of all trait categories sex differences in the amount of etiological influences. Sex-specific genetic factors were observed for 25% of trait categories, often involving obviously sex-dependent trait categories such as puberty-related disorders. Our findings show that for most traits the number of sex-specific genetic variants will be small. For those traits where we do report sexual dimorphism, sex-specific approaches may aid in future gene-finding efforts.
Language	English
Publishing date	2017-08-17
Publishing country	England
Document type	Journal Article ; 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/s41598-017-09249-3
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Article: Genetically-Informed Patient Selection for iPSC Studies of Complex Diseases May Aid in Reducing Cellular Heterogeneity.

Hoekstra, Stephanie D / Stringer, Sven / Heine, Vivi M / Posthuma, Danielle

Frontiers in cellular neuroscience

2017 Volume 11, Page(s) 164

Abstract: Induced pluripotent stem cell (iPSC) technology is more and more used for the study of genetically complex human disease but is challenged by variability, sample size and polygenicity. We discuss studies involving iPSC-derived neurons from patients with ... ...

Abstract	Induced pluripotent stem cell (iPSC) technology is more and more used for the study of genetically complex human disease but is challenged by variability, sample size and polygenicity. We discuss studies involving iPSC-derived neurons from patients with Schizophrenia (SCZ), to exemplify that heterogeneity in sampling strategy complicate the detection of disease mechanisms. We offer a solution to controlling variability within and between iPSC studies by using specific patient selection strategies.
Language	English
Publishing date	2017-06-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2452963-1
ISSN	1662-5102
ISSN	1662-5102
DOI	10.3389/fncel.2017.00164
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Article ; Online: Majority of human traits do not show evidence for sex-specific genetic and environmental effects

Sven Stringer / Tinca J. C. Polderman / Danielle Posthuma

Scientific Reports, Vol 7, Iss 1, Pp 1-

2017 Volume 7

Abstract: Abstract Sex differences in the etiology of human trait variation are a major topic of interest in the social and medical sciences given its far-reaching implications. For example, in genetic research, the presence of sex-specific effects would require ... ...

Abstract	Abstract Sex differences in the etiology of human trait variation are a major topic of interest in the social and medical sciences given its far-reaching implications. For example, in genetic research, the presence of sex-specific effects would require sex-stratified analysis, and in clinical practice sex-specific treatments would be warranted. Here, we present a study of 2,335,920 twin pairs, in which we tested sex differences in genetic and environmental contributions to variation in 2,608 reported human traits, clustered in 50 trait categories. Monozygotic and dizygotic male and female twin correlations were used to test whether the amount of genetic and environmental influences was equal between the sexes. By comparing dizygotic opposite sex twin correlations with dizygotic same sex twin correlations we could also test whether sex-specific genetic or environmental factors were involved. We observed for only 3% of all trait categories sex differences in the amount of etiological influences. Sex-specific genetic factors were observed for 25% of trait categories, often involving obviously sex-dependent trait categories such as puberty-related disorders. Our findings show that for most traits the number of sex-specific genetic variants will be small. For those traits where we do report sexual dimorphism, sex-specific approaches may aid in future gene-finding efforts.
Keywords	Medicine ; R ; Science ; Q
Subject code	590 ; 150
Language	English
Publishing date	2017-08-01T00:00:00Z
Publisher	Nature Publishing Group
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Item-level analyses reveal genetic heterogeneity in neuroticism.

Nagel, Mats / Watanabe, Kyoko / Stringer, Sven / Posthuma, Danielle / van der Sluis, Sophie

Nature communications

2018 Volume 9, Issue 1, Page(s) 905

Abstract: Genome-wide association studies (GWAS) of psychological traits are generally conducted on (dichotomized) sums of items or symptoms (e.g., case-control status), and not on the individual items or symptoms themselves. We conduct large-scale GWAS on 12 ... ...

Abstract	Genome-wide association studies (GWAS) of psychological traits are generally conducted on (dichotomized) sums of items or symptoms (e.g., case-control status), and not on the individual items or symptoms themselves. We conduct large-scale GWAS on 12 neuroticism items and observe notable and replicable variation in genetic signal between items. Within samples, genetic correlations among the items range between 0.38 and 0.91 (mean r
MeSH term(s)	Genetic Heterogeneity ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Meta-Analysis as Topic ; Molecular Sequence Annotation ; Neuroticism ; Phenotype
Language	English
Publishing date	2018-03-02
Publishing country	England
Document type	Journal Article ; 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/s41467-018-03242-8
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Article ; Online: Degree of genetic liability for Alzheimer's disease associated with specific proteomic profiles in cerebrospinal fluid.

Reus, Lianne M / Stringer, Sven / Posthuma, Danielle / Teunissen, Charlotte E / Scheltens, Philip / Pijnenburg, Yolande A L / Visser, Pieter Jelle / Tijms, Betty M

Neurobiology of aging

2020 Volume 93, Page(s) 144.e1–144.e15

Abstract: Genetic factors play a major role in Alzheimer's disease (AD) pathology, but biological mechanisms through which these factors contribute to AD remain elusive. Using a cerebrospinal fluid (CSF) proteomic approach, we examined associations between ... ...

Abstract	Genetic factors play a major role in Alzheimer's disease (AD) pathology, but biological mechanisms through which these factors contribute to AD remain elusive. Using a cerebrospinal fluid (CSF) proteomic approach, we examined associations between polygenic risk scores for AD (PGRS) and CSF proteomic profiles in 250 individuals with normal cognition, mild cognitive impairment, and AD-type dementia from the Alzheimer's Disease Neuroimaging Initiative. Out of 412 proteins, 201 were associated with PGRS. Hierarchical clustering analysis on proteins associated with PGRS at different single-nucleotide polymorphism p-value inclusion thresholds identified 3 clusters: (1) a protein cluster correlated with highly significant single-nucleotide polymorphisms, associated with amyloid-beta pathology and complement cascades; (2) a protein cluster associated with PGRS additionally including variants contributing to modest risk, involved in neural injury; (3) a protein cluster that also included less strongly associated variants, enriched with cytokine-cytokine interactions and cell adhesion molecules. These findings suggest that CSF protein levels reflect varying degrees of genetic liability for AD and may serve as a tool to investigate biological mechanisms in AD.
MeSH term(s)	Alzheimer Disease/genetics ; Amyloid Precursor Protein Secretases/cerebrospinal fluid ; Amyloid beta-Peptides/cerebrospinal fluid ; Chitinase-3-Like Protein 1/cerebrospinal fluid ; Cognitive Dysfunction/genetics ; Female ; Genetic Association Studies ; Humans ; Male ; Peptide Fragments/cerebrospinal fluid ; Polymorphism, Single Nucleotide ; Proteomics ; Risk ; Young Adult ; alpha-Synuclein/cerebrospinal fluid ; tau Proteins/cerebrospinal fluid
Chemical Substances	Amyloid beta-Peptides ; CHI3L1 protein, human ; Chitinase-3-Like Protein 1 ; Peptide Fragments ; alpha-Synuclein ; amyloid beta-protein (1-42) ; tau Proteins ; Amyloid Precursor Protein Secretases (EC 3.4.-)
Language	English
Publishing date	2020-03-24
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	604505-4
ISSN	1558-1497 ; 0197-4580
ISSN (online)	1558-1497
ISSN	0197-4580
DOI	10.1016/j.neurobiolaging.2020.03.012
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Article ; Online: Conditional and interaction gene-set analysis reveals novel functional pathways for blood pressure.

de Leeuw, Christiaan A / Stringer, Sven / Dekkers, Ilona A / Heskes, Tom / Posthuma, Danielle

Nature communications

2018 Volume 9, Issue 1, Page(s) 3768

Abstract: Gene-set analysis provides insight into which functional and biological properties of genes are aetiologically relevant for a particular phenotype. But genes have multiple properties, and these properties are often correlated across genes. This can cause ...

Abstract	Gene-set analysis provides insight into which functional and biological properties of genes are aetiologically relevant for a particular phenotype. But genes have multiple properties, and these properties are often correlated across genes. This can cause confounding in a gene-set analysis, because one property may be statistically associated even if biologically irrelevant to the phenotype, by being correlated with gene properties that are relevant. To address this issue we present a novel conditional and interaction gene-set analysis approach, which attains considerable functional refinement of its conclusions compared to traditional gene-set analysis. We applied our approach to blood pressure phenotypes in the UK Biobank data (N = 360,243), the results of which we report here. We confirm and further refine several associations with multiple processes involved in heart and blood vessel formation but also identify novel interactions, among others with cardiovascular tissues involved in regulatory pathways of blood pressure homoeostasis.
MeSH term(s)	Blood Pressure/genetics ; Computational Biology ; Computer Simulation ; Gene Regulatory Networks/genetics ; Homeostasis ; Humans ; Models, Statistical ; Phenotype
Language	English
Publishing date	2018-09-14
Publishing country	England
Document type	Journal Article ; 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/s41467-018-06022-6
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Article ; Online: Correction to: Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.

Soler Artigas, María / Sánchez-Mora, Cristina / Rovira, Paula / Richarte, Vanesa / Garcia-Martínez, Iris / Pagerols, Mireia / Demontis, Ditte / Stringer, Sven / Vink, Jacqueline M / Børglum, Anders D / Neale, Benjamin M / Franke, Barbara / Faraone, Stephen V / Casas, Miguel / Ramos-Quiroga, Josep Antoni / Ribasés, Marta

Molecular psychiatry

2021 Volume 26, Issue 7, Page(s) 3663

Language	English
Publishing date	2021-04-26
Publishing country	England
Document type	Published Erratum
ZDB-ID	1330655-8
ISSN	1476-5578 ; 1359-4184
ISSN (online)	1476-5578
ISSN	1359-4184
DOI	10.1038/s41380-021-01049-6
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Article ; Online: Item-level analyses reveal genetic heterogeneity in neuroticism

Mats Nagel / Kyoko Watanabe / Sven Stringer / Danielle Posthuma / Sophie van der Sluis

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

2018 Volume 10

Abstract: Neuroticism can be assessed as a composite score of individual items. Here, Nagel et al. perform genetic association studies for 12 neuroticism items and the sum-score and demonstrate genetic heterogeneity at the item-level. ...

Abstract	Neuroticism can be assessed as a composite score of individual items. Here, Nagel et al. perform genetic association studies for 12 neuroticism items and the sum-score and demonstrate genetic heterogeneity at the item-level.
Keywords	Science ; Q
Language	English
Publishing date	2018-03-01T00:00:00Z
Publisher	Nature Publishing Group
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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