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Article: Lifespan reference curves for harmonizing multi-site regional brain white matter metrics from diffusion MRI.

Zhu, Alyssa H / Nir, Talia M / Javid, Shayan / Villalon-Reina, Julio E / Rodrigue, Amanda L / Strike, Lachlan T / de Zubicaray, Greig I / McMahon, Katie L / Wright, Margaret J / Medland, Sarah E / Blangero, John / Glahn, David C / Kochunov, Peter / Håberg, Asta K / Thompson, Paul M / Jahanshad, Neda

bioRxiv : the preprint server for biology

2024

Abstract: Age-related white matter (WM) microstructure maturation and decline occur throughout the human lifespan, complementing the process of gray matter development and degeneration. Here, we create normative lifespan reference curves for global and regional WM ...

Abstract	Age-related white matter (WM) microstructure maturation and decline occur throughout the human lifespan, complementing the process of gray matter development and degeneration. Here, we create normative lifespan reference curves for global and regional WM microstructure by harmonizing diffusion MRI (dMRI)-derived data from ten public datasets (N = 40,898 subjects; age: 3-95 years; 47.6% male). We tested three harmonization methods on regional diffusion tensor imaging (DTI) based fractional anisotropy (FA), a metric of WM microstructure, extracted using the ENIGMA-DTI pipeline. ComBat-GAM harmonization provided multi-study trajectories most consistent with known WM maturation peaks. Lifespan FA reference curves were validated with test-retest data and used to assess the effect of the ApoE4 risk factor for dementia in WM across the lifespan. We found significant associations between ApoE4 and FA in WM regions associated with neurodegenerative disease even in healthy individuals across the lifespan, with regional age-by-genotype interactions. Our lifespan reference curves and tools to harmonize new dMRI data to the curves are publicly available as eHarmonize (https://github.com/ahzhu/eharmonize).
Language	English
Publishing date	2024-03-01
Publishing country	United States
Document type	Preprint
DOI	10.1101/2024.02.22.581646
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Article ; Online: The cotyledon cell wall and intracellular matrix are factors that limit iron bioavailability of the common bean (Phaseolus vulgaris).

Glahn, Raymond P / Tako, Elad / Cichy, Karen / Wiesinger, Jason

Food & function

2016 Volume 7, Issue 7, Page(s) 3193–3200

Abstract: Strategies that enhance the Fe bioavailability of the bean are of keen interest to nutritionists, bean breeders and growers. In beans, the cotyledons contain 75-80% of the total seed Fe, most of which appears to be located within the cotyledon cells. The ...

Abstract	Strategies that enhance the Fe bioavailability of the bean are of keen interest to nutritionists, bean breeders and growers. In beans, the cotyledons contain 75-80% of the total seed Fe, most of which appears to be located within the cotyledon cells. The cotyledon cell walls are known to be resistant to digestion in the stomach and the upper small intestine. Therefore, given the above and the general belief that the primary site for human Fe absorption is the upper small intestine, the present study was designed to determine if the cotyledon cell walls represent a barrier to Fe absorption from the bean. To do so, we utilized high pressure to rupture bean cotyledon cells. The iron bioavailability of cooked bean samples was assessed using an in vitro digestion/Caco-2 cell culture model. Microscopy analyses confirmed that the cotyledon cell walls are highly resistant to pepsin, the low pH of the stomach, and the pancreatic enzymes, indicating that the walls are a barrier to Fe absorption from the bean. Relatively high intracellular pressure (>4000 psi) was required to initiate cell wall rupture. Surprisingly, the lysis of cotyledon cells did not result in a consistent or strong enhancement of bioavailable Fe, suggesting that the liberated intracellular starch and protein influenced the Fe bioavailability by creating a matrix that inhibited the exchange of Fe with the cell transport mechanism. Such observations warrant further pursuit in vivo as the confirmation of these effects would reshape strategies to enhance Fe absorption from beans.
Language	English
Publishing date	2016-07-13
Publishing country	England
Document type	Journal Article
ZDB-ID	2612033-1
ISSN	2042-650X ; 2042-6496
ISSN (online)	2042-650X
ISSN	2042-6496
DOI	10.1039/c6fo00490c
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Article ; Online: Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population.

Humphries, Elizabeth M / Ahn, Kwangmi / Kember, Rachel L / Lopes, Fabiana L / Mocci, Evelina / Peralta, Juan M / Blangero, John / Glahn, David C / Goes, Fernando S / Zandi, Peter P / Kochunov, Peter / Van Hout, Cristopher / Shuldiner, Alan R / Pollin, Toni I / Mitchell, Braxton D / Bucan, Maja / Hong, L Elliot / McMahon, Francis J / Ament, Seth A

Molecular psychiatry

2023 Volume 28, Issue 12, Page(s) 5262–5271

Abstract: Genome-wide association studies (GWAS) of mood disorders in large case-control cohorts have identified numerous risk loci, yet pathophysiological mechanisms remain elusive, primarily due to the very small effects of common variants. We sought to discover ...

Abstract	Genome-wide association studies (GWAS) of mood disorders in large case-control cohorts have identified numerous risk loci, yet pathophysiological mechanisms remain elusive, primarily due to the very small effects of common variants. We sought to discover risk variants with larger effects by conducting a genome-wide association study of mood disorders in a founder population, the Old Order Amish (OOA, n = 1,672). Our analysis revealed four genome-wide significant risk loci, all of which were associated with >2-fold relative risk. Quantitative behavioral and neurocognitive assessments (n = 314) revealed effects of risk variants on sub-clinical depressive symptoms and information processing speed. Network analysis suggested that OOA-specific risk loci harbor novel risk-associated genes that interact with known neuropsychiatry-associated genes via gene interaction networks. Annotation of the variants at these risk loci revealed population-enriched, non-synonymous variants in two genes encoding neurodevelopmental transcription factors, CUX1 and CNOT1. Our findings provide insight into the genetic architecture of mood disorders and a substrate for mechanistic and clinical studies.
MeSH term(s)	Humans ; Genome-Wide Association Study/methods ; Male ; Female ; Genetic Predisposition to Disease/genetics ; Mood Disorders/genetics ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Amish/genetics ; Adult ; Case-Control Studies ; Transcription Factors/genetics ; Risk Factors ; Genetic Loci ; Repressor Proteins/genetics ; Aged ; Homeodomain Proteins/genetics ; Founder Effect ; Nuclear Proteins/genetics
Chemical Substances	Transcription Factors ; Repressor Proteins ; Homeodomain Proteins ; Nuclear Proteins
Language	English
Publishing date	2023-03-07
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1330655-8
ISSN	1476-5578 ; 1359-4184
ISSN (online)	1476-5578
ISSN	1359-4184
DOI	10.1038/s41380-023-02014-1
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Article: The Common Bean

McClean, Phillip E / Lee, Rian / Howe, Kevin / Osborne, Caroline / Grimwood, Jane / Levy, Shawn / Haugrud, Amanda Peters / Plott, Chris / Robinson, Melanie / Skiba, Ryan M / Tanha, Tabassum / Zamani, Mariam / Thannhauser, Theodore W / Glahn, Raymond P / Schmutz, Jeremy / Osorno, Juan M / Miklas, Phillip N

Frontiers in plant science

2022 Volume 13, Page(s) 869582

Abstract: ... The ... ...

Abstract	The classic
Language	English
Publishing date	2022-03-31
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2613694-6
ISSN	1664-462X
ISSN	1664-462X
DOI	10.3389/fpls.2022.869582
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Article ; Online: European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility.

Hopkins, P M / Rüffert, H / Snoeck, M M / Girard, T / Glahn, K P E / Ellis, F R / Müller, C R / Urwyler, A

British journal of anaesthesia

2015 Volume 115, Issue 4, Page(s) 531–539

Abstract: It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from the European Malignant Hyperthermia Group. This has subsequently been used in more than ...

Abstract	It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from the European Malignant Hyperthermia Group. This has subsequently been used in more than 10 000 individuals worldwide to inform use of anaesthetic drugs in these patients with increased risk of developing malignant hyperthermia during general anaesthesia, representing an early and successful example of stratified medicine. In 2001, our group also published a guideline for the use of DNA-based screening of malignant hyperthermia susceptibility. We now present an updated and complete guideline for the diagnostic pathway for patients potentially at increased risk of developing malignant hyperthermia. We introduce the new guideline with a narrative commentary that describes its development, the changes to previously published protocols and guidelines, and new sections, including recommendations for patient referral criteria and clinical interpretation of laboratory findings.
MeSH term(s)	Europe ; Genetic Predisposition to Disease ; Humans ; Malignant Hyperthermia/diagnosis ; Malignant Hyperthermia/genetics ; Referral and Consultation
Language	English
Publishing date	2015-10
Publishing country	England
Document type	Journal Article ; Practice Guideline
ZDB-ID	80074-0
ISSN	1471-6771 ; 0007-0912
ISSN (online)	1471-6771
ISSN	0007-0912
DOI	10.1093/bja/aev225
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Article ; Online: The lipidome in major depressive disorder: Shared genetic influence for ether-phosphatidylcholines, a plasma-based phenotype related to inflammation, and disease risk.

Knowles, E E M / Huynh, K / Meikle, P J / Göring, H H H / Olvera, R L / Mathias, S R / Duggirala, R / Almasy, L / Blangero, J / Curran, J E / Glahn, D C

European psychiatry : the journal of the Association of European Psychiatrists

2017 Volume 43, Page(s) 44–50

Abstract: ... PC(P) subclasses). Furthermore, we examined the cluster structure of the twenty-five species ...

Abstract	Background: The lipidome is rapidly garnering interest in the field of psychiatry. Recent studies have implicated lipidomic changes across numerous psychiatric disorders. In particular, there is growing evidence that the concentrations of several classes of lipids are altered in those diagnosed with MDD. However, for lipidomic abnormalities to be considered potential treatment targets for MDD (rather than secondary manifestations of the disease), a shared etiology between lipid concentrations and MDD should be demonstrated. Methods: In a sample of 567 individuals from 37 extended pedigrees (average size 13.57 people, range=3-80), we used mass spectrometry lipidomic measures to evaluate the genetic overlap between twenty-three biologically distinct lipid classes and a dimensional scale of MDD. Results: We found that the lipid class with the largest endophenotype ranking value (ERV, a standardized parametric measure of pleiotropy) were ether-phosphodatidylcholines (alkylphosphatidylcholine, PC(O) and alkenylphosphatidylcholine, PC(P) subclasses). Furthermore, we examined the cluster structure of the twenty-five species within the top-ranked lipid class, and the relationship of those clusters with MDD. This analysis revealed that species containing arachidonic acid generally exhibited the greatest degree of genetic overlap with MDD. Conclusions: This study is the first to demonstrate a shared genetic etiology between MDD and ether-phosphatidylcholine species containing arachidonic acid, an omega-6 fatty acid that is a precursor to inflammatory mediators, such as prostaglandins. The study highlights the potential utility of the well-characterized linoleic/arachidonic acid inflammation pathway as a diagnostic marker and/or treatment target for MDD.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Depressive Disorder, Major/genetics ; Depressive Disorder, Major/metabolism ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Phosphatidylcholines/genetics ; Phosphatidylcholines/metabolism
Chemical Substances	Phosphatidylcholines
Language	English
Publishing date	2017-02-21
Publishing country	England
Document type	Journal Article
ZDB-ID	1074337-6
ISSN	1778-3585 ; 0767-399X ; 0924-9338
ISSN (online)	1778-3585
ISSN	0767-399X ; 0924-9338
DOI	10.1016/j.eurpsy.2017.02.479
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Article ; Online: Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.

Kopal, Jakub / Kumar, Kuldeep / Saltoun, Karin / Modenato, Claudia / Moreau, Clara A / Martin-Brevet, Sandra / Huguet, Guillaume / Jean-Louis, Martineau / Martin, Charles-Olivier / Saci, Zohra / Younis, Nadine / Tamer, Petra / Douard, Elise / Maillard, Anne M / Rodriguez-Herreros, Borja / Pain, Aurèlie / Richetin, Sonia / Kushan, Leila / Silva, Ana I /

van den Bree, Marianne B M / Linden, David E J / Owen, Michael J / Hall, Jeremy / Lippé, Sarah / Draganski, Bogdan / Sønderby, Ida E / Andreassen, Ole A / Glahn, David C / Thompson, Paul M / Bearden, Carrie E / Jacquemont, Sébastien / Bzdok, Danilo

Nature human behaviour

2023 Volume 7, Issue 6, Page(s) 1001–1017

Abstract: Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale ... ...

Abstract	Copy number variations (CNVs) are rare genomic deletions and duplications that can affect brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, existing studies have primarily examined single CNV loci in small clinical cohorts. It remains unknown, for example, how distinct CNVs escalate vulnerability for the same developmental and psychiatric disorders. Here we quantitatively dissect the associations between brain organization and behavioural differentiation across 8 key CNVs. In 534 CNV carriers, we explored CNV-specific brain morphology patterns. CNVs were characteristic of disparate morphological changes involving multiple large-scale networks. We extensively annotated these CNV-associated patterns with ~1,000 lifestyle indicators through the UK Biobank resource. The resulting phenotypic profiles largely overlap and have body-wide implications, including the cardiovascular, endocrine, skeletal and nervous systems. Our population-level investigation established brain structural divergences and phenotypical convergences of CNVs, with direct relevance to major brain disorders.
MeSH term(s)	Humans ; DNA Copy Number Variations/genetics ; Brain/diagnostic imaging
Language	English
Publishing date	2023-03-02
Publishing country	England
Document type	Journal Article
ISSN	2397-3374
ISSN (online)	2397-3374
DOI	10.1038/s41562-023-01541-9
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Article ; Online: Returning Individual Research Results from Digital Phenotyping in Psychiatry.

Shen, Francis X / Baum, Matthew L / Martinez-Martin, Nicole / Miner, Adam S / Abraham, Melissa / Brownstein, Catherine A / Cortez, Nathan / Evans, Barbara J / Germine, Laura T / Glahn, David C / Grady, Christine / Holm, Ingrid A / Hurley, Elisa A / Kimble, Sara / Lázaro-Muñoz, Gabriel / Leary, Kimberlyn / Marks, Mason / Monette, Patrick J / Onnela, Jukka-Pekka /

O'Rourke, P Pearl / Rauch, Scott L / Shachar, Carmel / Sen, Srijan / Vahia, Ipsit / Vassy, Jason L / Baker, Justin T / Bierer, Barbara E / Silverman, Benjamin C

The American journal of bioethics : AJOB

2023 Volume 24, Issue 2, Page(s) 69–90

Abstract: Psychiatry is rapidly adopting digital phenotyping and artificial intelligence/machine learning tools to study mental illness based on tracking participants' locations, online activity, phone and text message usage, heart rate, sleep, physical activity, ... ...

Abstract	Psychiatry is rapidly adopting digital phenotyping and artificial intelligence/machine learning tools to study mental illness based on tracking participants' locations, online activity, phone and text message usage, heart rate, sleep, physical activity, and more. Existing ethical frameworks for return of individual research results (IRRs) are inadequate to guide researchers for when, if, and how to return this unprecedented number of potentially sensitive results about each participant's real-world behavior. To address this gap, we convened an interdisciplinary expert working group, supported by a National Institute of Mental Health grant. Building on established guidelines and the emerging norm of returning results in participant-centered research, we present a novel framework specific to the ethical, legal, and social implications of returning IRRs in digital phenotyping research. Our framework offers researchers, clinicians, and Institutional Review Boards (IRBs) urgently needed guidance, and the principles developed here in the context of psychiatry will be readily adaptable to other therapeutic areas.
MeSH term(s)	Humans ; Artificial Intelligence ; Psychiatry ; Mental Disorders/therapy ; Ethics Committees, Research ; Research Personnel
Language	English
Publishing date	2023-05-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	2060433-6
ISSN	1536-0075 ; 1526-5161
ISSN (online)	1536-0075
ISSN	1526-5161
DOI	10.1080/15265161.2023.2180109
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Article ; Online: Angioplasty in asymptomatic carotid artery stenosis vs. endarterectomy compared to best medical treatment: One-year interim results of SPACE-2.

Reiff, T / Eckstein, H H / Mansmann, U / Jansen, O / Fraedrich, G / Mudra, H / Böckler, D / Böhm, M / Brückmann, H / Debus, E S / Fiehler, J / Lang, W / Mathias, K / Ringelstein, E B / Schmidli, J / Stingele, R / Zahn, R / Zeller, T / Hetzel, A /

Bodechtel, U / Binder, A / Glahn, J / Hacke, W / Ringleb, P A

International journal of stroke : official journal of the International Stroke Society

2019 , Page(s) 1747493019833017

Abstract: ... secondary endpoint did not significantly differ between groups (CEA 2.5%, CAS 3.0%, BMT 0.9%; p = 0.530 ... as well as rates of any stroke (CEA 3.9%, CAS 4.1%, BMT 0.9%; p = 0.256) and all-cause mortality (CEA 2.5 ... CAS 1.0%, BMT 3.5%; p = 0.304). About half of all strokes occurred in the peri-interventional period ...

Abstract	Background: Treatment of individuals with asymptomatic carotid artery stenosis is still handled controversially. Recommendations for treatment of asymptomatic carotid stenosis with carotid endarterectomy (CEA) are based on trials having recruited patients more than 15 years ago. Registry data indicate that advances in best medical treatment (BMT) may lead to a markedly decreasing risk of stroke in asymptomatic carotid stenosis. The aim of the SPACE-2 trial (ISRCTN78592017) was to compare the stroke preventive effects of BMT alone with that of BMT in combination with CEA or carotid artery stenting (CAS), respectively, in patients with asymptomatic carotid artery stenosis of ≥70% European Carotid Surgery Trial (ECST) criteria. Methods: SPACE-2 is a randomized, controlled, multicenter, open study. A major secondary endpoint was the cumulative rate of any stroke (ischemic or hemorrhagic) or death from any cause within 30 days plus an ipsilateral ischemic stroke within one year of follow-up. Safety was assessed as the rate of any stroke and death from any cause within 30 days after CEA or CAS. Protocol changes had to be implemented. The results on the one-year period after treatment are reported. Findings: It was planned to enroll 3550 patients. Due to low recruitment, the enrollment of patients was stopped prematurely after randomization of 513 patients in 36 centers to CEA (n = 203), CAS (n = 197), or BMT (n = 113). The one-year rate of the major secondary endpoint did not significantly differ between groups (CEA 2.5%, CAS 3.0%, BMT 0.9%; p = 0.530) as well as rates of any stroke (CEA 3.9%, CAS 4.1%, BMT 0.9%; p = 0.256) and all-cause mortality (CEA 2.5%, CAS 1.0%, BMT 3.5%; p = 0.304). About half of all strokes occurred in the peri-interventional period. Higher albeit statistically non-significant rates of restenosis occurred in the stenting group (CEA 2.0% vs. CAS 5.6%; p = 0.068) without evidence of increased stroke rates. Interpretation: The low sample size of this prematurely stopped trial of 513 patients implies that its power is not sufficient to show that CEA or CAS is superior to a modern medical therapy (BMT) in the primary prevention of ischemic stroke in patients with an asymptomatic carotid stenosis up to one year after treatment. Also, no evidence for differences in safety between CAS and CEA during the first year after treatment could be derived. Follow-up will be performed up to five years. Data may be used for pooled analysis with ongoing trials.
Language	English
Publishing date	2019-03-15
Publishing country	United States
Document type	Journal Article
ZDB-ID	2303728-3
ISSN	1747-4949 ; 1747-4930
ISSN (online)	1747-4949
ISSN	1747-4930
DOI	10.1177/1747493019833017
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Article ; Online: Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions.

Moreau, Clara A / Kumar, Kuldeep / Harvey, Annabelle / Huguet, Guillaume / Urchs, Sebastian G W / Schultz, Laura M / Sharmarke, Hanad / Jizi, Khadije / Martin, Charles-Olivier / Younis, Nadine / Tamer, Petra / Martineau, Jean-Louis / Orban, Pierre / Silva, Ana Isabel / Hall, Jeremy / van den Bree, Marianne B M / Owen, Michael J / Linden, David E J / Lippé, Sarah /

Bearden, Carrie E / Almasy, Laura / Glahn, David C / Thompson, Paul M / Bourgeron, Thomas / Bellec, Pierre / Jacquemont, Sebastien

Brain : a journal of neurology

2022 Volume 146, Issue 4, Page(s) 1686–1696

Abstract: Pleiotropy occurs when a genetic variant influences more than one trait. This is a key property of the genomic architecture of psychiatric disorders and has been observed for rare and common genomic variants. It is reasonable to hypothesize that the ... ...

Abstract	Pleiotropy occurs when a genetic variant influences more than one trait. This is a key property of the genomic architecture of psychiatric disorders and has been observed for rare and common genomic variants. It is reasonable to hypothesize that the microscale genetic overlap (pleiotropy) across psychiatric conditions and cognitive traits may lead to similar overlaps at the macroscale brain level such as large-scale brain functional networks. We took advantage of brain connectivity, measured by resting-state functional MRI to measure the effects of pleiotropy on large-scale brain networks, a putative step from genes to behaviour. We processed nine resting-state functional MRI datasets including 32 726 individuals and computed connectome-wide profiles of seven neuropsychiatric copy-number-variants, five polygenic scores, neuroticism and fluid intelligence as well as four idiopathic psychiatric conditions. Nine out of 19 pairs of conditions and traits showed significant functional connectivity correlations (rFunctional connectivity), which could be explained by previously published levels of genomic (rGenetic) and transcriptomic (rTranscriptomic) correlations with moderate to high concordance: rGenetic-rFunctional connectivity = 0.71 [0.40-0.87] and rTranscriptomic-rFunctional connectivity = 0.83 [0.52; 0.94]. Extending this analysis to functional connectivity profiles associated with rare and common genetic risk showed that 30 out of 136 pairs of connectivity profiles were correlated above chance. These similarities between genetic risks and psychiatric disorders at the connectivity level were mainly driven by the overconnectivity of the thalamus and the somatomotor networks. Our findings suggest a substantial genetic component for shared connectivity profiles across conditions and traits, opening avenues to delineate general mechanisms-amenable to intervention-across psychiatric conditions and genetic risks.
MeSH term(s)	Humans ; Genetic Pleiotropy ; Magnetic Resonance Imaging ; Mental Disorders/diagnostic imaging ; Mental Disorders/genetics ; Brain/diagnostic imaging ; Connectome
Language	English
Publishing date	2022-09-02
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awac315
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