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  1. Article: Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent.

    De Lillo, Antonella / Wendt, Frank R / Pathak, Gita A / Polimanti, Renato

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: To investigate the polygenicity of complex traits in populations of East Asian (EAS) and European (EUR) descents, we leveraged genome-wide data from Biobank Japan, UK Biobank, and FinnGen cohorts. Specifically, we analyzed up to 215 outcomes related to ... ...

    Abstract To investigate the polygenicity of complex traits in populations of East Asian (EAS) and European (EUR) descents, we leveraged genome-wide data from Biobank Japan, UK Biobank, and FinnGen cohorts. Specifically, we analyzed up to 215 outcomes related to 18 health domains, assessing their polygenic architecture via descriptive statistics, such as the proportion of susceptibility SNPs per trait (π
    Language English
    Publishing date 2023-06-03
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.05.25.23290542
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The impact of assortative mating, participation bias and socioeconomic status on the polygenic risk of behavioural and psychiatric traits.

    Cabrera-Mendoza, Brenda / Wendt, Frank R / Pathak, Gita A / Yengo, Loic / Polimanti, Renato

    Nature human behaviour

    2024  

    Abstract: To investigate assortative mating (AM), participation bias and socioeconomic status (SES) with respect to the genetics of behavioural and psychiatric traits, we estimated AM signatures using gametic phase disequilibrium and within-spouses and within- ... ...

    Abstract To investigate assortative mating (AM), participation bias and socioeconomic status (SES) with respect to the genetics of behavioural and psychiatric traits, we estimated AM signatures using gametic phase disequilibrium and within-spouses and within-siblings polygenic risk score correlation analyses, also performing a SES conditional analysis. The cross-method meta-analysis identified AM genetic signatures for multiple alcohol-related phenotypes, bipolar disorder, major depressive disorder, schizophrenia and Tourette syndrome. Here, after SES conditioning, we observed changes in the AM genetic signatures for maximum habitual alcohol intake, frequency of drinking alcohol and Tourette syndrome. We also observed significant gametic phase disequilibrium differences between UK Biobank mental health questionnaire responders versus non-responders for major depressive disorder and alcohol use disorder. These results highlight the impact of AM, participation bias and SES on the polygenic risk of behavioural and psychiatric traits, particularly in alcohol-related traits.
    Language English
    Publishing date 2024-02-16
    Publishing country England
    Document type Journal Article
    ISSN 2397-3374
    ISSN (online) 2397-3374
    DOI 10.1038/s41562-024-01828-5
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  3. Article ; Online: Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent.

    De Lillo, Antonella / Wendt, Frank R / Pathak, Gita A / Polimanti, Renato

    Human genomics

    2023  Volume 17, Issue 1, Page(s) 67

    Abstract: To investigate the polygenicity of complex traits in populations of East Asian (EAS) and European (EUR) descents, we leveraged genome-wide data from Biobank Japan, UK Biobank, and FinnGen cohorts. Specifically, we analyzed up to 215 outcomes related to ... ...

    Abstract To investigate the polygenicity of complex traits in populations of East Asian (EAS) and European (EUR) descents, we leveraged genome-wide data from Biobank Japan, UK Biobank, and FinnGen cohorts. Specifically, we analyzed up to 215 outcomes related to 18 health domains, assessing their polygenic architecture via descriptive statistics, such as the proportion of susceptibility SNPs per trait (π
    MeSH term(s) Humans ; East Asian People ; Ethnicity/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study/methods ; Japan ; Multifactorial Inheritance/genetics ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; European People
    Language English
    Publishing date 2023-07-20
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2147618-4
    ISSN 1479-7364 ; 1479-7364
    ISSN (online) 1479-7364
    ISSN 1479-7364
    DOI 10.1186/s40246-023-00514-3
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  4. Article ; Online: Unraveling COVID-19 relationship with anxiety disorders and symptoms using genome-wide data.

    Asgel, Zeynep / Kouakou, Manuela R / Koller, Dora / Pathak, Gita A / Cabrera-Mendoza, Brenda / Polimanti, Renato

    Journal of affective disorders

    2024  Volume 352, Page(s) 333–341

    Abstract: Background: There is still a limited understanding of the dynamics contributing to the comorbidity of COVID-19 and anxiety outcomes.: Methods: To dissect the pleiotropic mechanisms contributing to COVID-19/anxiety comorbidity, we used genome-wide ... ...

    Abstract Background: There is still a limited understanding of the dynamics contributing to the comorbidity of COVID-19 and anxiety outcomes.
    Methods: To dissect the pleiotropic mechanisms contributing to COVID-19/anxiety comorbidity, we used genome-wide data from UK Biobank (up to 420,531 participants), FinnGen Project (up to 329,077 participants), Million Veteran Program (175,163 participants), and COVID-19 Host Genetics Initiative (up to 122,616 cases and 2,475,240 controls). Specifically, we assessed global and local genetic correlation and genetically inferred effects linking COVID-19 outcomes (infection, hospitalization, and severe respiratory symptoms) to anxiety disorders and symptoms.
    Results: We observed a strong genetic correlation of anxiety disorder with COVID-19 positive status (rg = 0.35, p = 2×10
    Conclusions: This study provided insights into the pleiotropic mechanisms linking COVID-19 and anxiety outcomes, suggesting differences between dynamics related to anxiety disorders and those related to anxiety symptoms.
    MeSH term(s) Humans ; COVID-19 ; Anxiety Disorders/epidemiology ; Anxiety Disorders/genetics ; Anxiety/epidemiology ; Anxiety/genetics ; Pain ; Ethanol ; Genome-Wide Association Study
    Chemical Substances Ethanol (3K9958V90M)
    Language English
    Publishing date 2024-02-19
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 135449-8
    ISSN 1573-2517 ; 0165-0327
    ISSN (online) 1573-2517
    ISSN 0165-0327
    DOI 10.1016/j.jad.2024.02.061
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1485: 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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  5. Article ; Online: Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes.

    Wendt, Frank R / Pathak, Gita A / Polimanti, Renato

    Nature communications

    2022  Volume 13, Issue 1, Page(s) 7682

    Abstract: When present in coding regions, tandem repeats (TRs) may have large effects on protein structure and function contributing to health and disease. We use a family-based design to identify de novo TRs and assess their impact at the population level in 148, ... ...

    Abstract When present in coding regions, tandem repeats (TRs) may have large effects on protein structure and function contributing to health and disease. We use a family-based design to identify de novo TRs and assess their impact at the population level in 148,607 European ancestry participants from the UK Biobank. The 427 loci with de novo TR mutations are enriched for targets of microRNA-184 (21.1-fold, P = 4.30 × 10
    MeSH term(s) Carotid Intima-Media Thickness ; Biological Specimen Banks ; Tandem Repeat Sequences ; Phenotype ; Proteins/genetics ; United Kingdom ; Genome-Wide Association Study ; Polymorphism, Single Nucleotide
    Chemical Substances Proteins
    Language English
    Publishing date 2022-12-12
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-022-35423-x
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  6. Article ; Online: Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis.

    D'Antona, Salvatore / Pathak, Gita A / Koller, Dora / Porro, Danilo / Cava, Claudia / Polimanti, Renato

    Human genetics

    2023  Volume 142, Issue 8, Page(s) 1173–1183

    Abstract: Leveraging genome-wide association statistics generated from a large study of amyotrophic lateral sclerosis (ALS; 29,612 cases and 122,656 controls) and UK Biobank (UKB; 4,024 phenotypes, up to 361,194 participants), we conducted a phenome-wide analysis ... ...

    Abstract Leveraging genome-wide association statistics generated from a large study of amyotrophic lateral sclerosis (ALS; 29,612 cases and 122,656 controls) and UK Biobank (UKB; 4,024 phenotypes, up to 361,194 participants), we conducted a phenome-wide analysis of ALS genetic liability and identified 46 genetically correlated traits, such as fluid intelligence score (r
    MeSH term(s) Humans ; Amyotrophic Lateral Sclerosis/genetics ; Genome-Wide Association Study ; Duodenitis ; Phenotype ; Gastritis ; Mendelian Randomization Analysis
    Language English
    Publishing date 2023-02-11
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-023-02525-5
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 256: 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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  7. Article ; Online: Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.

    De Lillo, Antonella / Pathak, Gita A / Low, Aislinn / De Angelis, Flavio / Abou Alaiwi, Sarah / Miller, Edward J / Fuciarelli, Maria / Polimanti, Renato

    Human genomics

    2024  Volume 18, Issue 1, Page(s) 31

    Abstract: Purpose: Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotype-phenotype correlation with limited information regarding differences among worldwide populations.: Methods: We ... ...

    Abstract Purpose: Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotype-phenotype correlation with limited information regarding differences among worldwide populations.
    Methods: We compared 676 diverse individuals carrying TTR amyloidogenic mutations (rs138065384, Phe44Leu; rs730881165, Ala81Thr; rs121918074, His90Asn; rs76992529, Val122Ile) to 12,430 non-carriers matched by age, sex, and genetically-inferred ancestry to assess their clinical presentations across 1,693 outcomes derived from electronic health records in UK biobank.
    Results: In individuals of African descent (AFR), Val122Ile mutation was linked to multiple outcomes related to the circulatory system (fold-enrichment = 2.96, p = 0.002) with the strongest associations being cardiac congenital anomalies (phecode 747.1, p = 0.003), endocarditis (phecode 420.3, p = 0.006), and cardiomyopathy (phecode 425, p = 0.007). In individuals of Central-South Asian descent (CSA), His90Asn mutation was associated with dermatologic outcomes (fold-enrichment = 28, p = 0.001). The same TTR mutation was linked to neoplasms in European-descent individuals (EUR, fold-enrichment = 3.09, p = 0.003). In EUR, Ala81Thr showed multiple associations with respiratory outcomes related (fold-enrichment = 3.61, p = 0.002), but the strongest association was with atrioventricular block (phecode 426.2, p = 2.81 × 10
    Conclusions: Overall, these findings highlight that TTR amyloidogenic mutations present ancestry-specific and ancestry-convergent associations related to a range of health domains. This supports the need to increase awareness regarding the range of outcomes associated with TTR mutations across worldwide populations to reduce misdiagnosis and delayed diagnosis of TTR-related amyloidosis.
    MeSH term(s) Humans ; Prealbumin/genetics ; Mutation ; Amyloidosis/diagnosis ; Amyloidosis/genetics ; Phenotype ; Genetics, Population
    Chemical Substances Prealbumin
    Language English
    Publishing date 2024-03-25
    Publishing country England
    Document type Meta-Analysis ; Journal Article
    ZDB-ID 2147618-4
    ISSN 1479-7364 ; 1479-7364
    ISSN (online) 1479-7364
    ISSN 1479-7364
    DOI 10.1186/s40246-024-00596-7
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  8. Article: Unraveling COVID-19 Relationship with Anxiety Disorders and Symptoms.

    Asgel, Zeynep / Kouakou, Manuela R / Koller, Dora / Pathak, Gita A / Cabrera-Mendoza, Brenda / Polimanti, Renato

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Background: While COVID-19 outcomes are associated with increased anxiety, individuals affected by anxiety disorders are more likely to develop severe COVID-19 outcomes.: Methods: We used genome-wide data from UK Biobank (up to 420,531 participants), ...

    Abstract Background: While COVID-19 outcomes are associated with increased anxiety, individuals affected by anxiety disorders are more likely to develop severe COVID-19 outcomes.
    Methods: We used genome-wide data from UK Biobank (up to 420,531 participants), FinnGen Project (up to 329,077 participants), Million Veteran Program (175,163 participants), and COVID-19 Host Genetics Initiative (up to 122,616 cases and 2,475,240 controls) to investigate possible causal effects and shared genetic mechanisms linking COVID-19 outcomes to anxiety disorders and symptoms.
    Results: We observed a strong genetic correlation of anxiety disorder with COVID-19 positive status (rg=0.35, p=2 × 10
    Conclusions: This study provided important insights into the relationship between COVID-19 and mental health, differentiating the dynamics linking anxiety disorders to COVID-19 from the effect of COVID-19 on anxiety symptoms.
    Language English
    Publishing date 2023-07-23
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.07.21.23293001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: A genetic exploration of the relationship between Posttraumatic Stress Disorder and cardiovascular diseases.

    Lukas, Eva / Veeneman, Rada R / Smit, Dirk Ja / Vermeulen, Jentien M / Pathak, Gita A / Polimanti, Renato / Verweij, Karin Jh / Treur, Jorien L

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: Background and aims: Experiencing a traumatic event may lead to Posttraumatic Stress Disorder (PTSD), including symptoms such as flashbacks and hyperarousal. Individuals suffering from PTSD are at increased risk of cardiovascular disease (CVD), but it ... ...

    Abstract Background and aims: Experiencing a traumatic event may lead to Posttraumatic Stress Disorder (PTSD), including symptoms such as flashbacks and hyperarousal. Individuals suffering from PTSD are at increased risk of cardiovascular disease (CVD), but it is unclear why. This study assesses shared genetic liability and potential causal pathways between PTSD and CVD.
    Methods: We leveraged summary-level data of genome-wide association studies (PTSD: N= 1,222,882; atrial fibrillation (AF): N=482,409; coronary artery disease (CAD): N=1,165,690; hypertension: N=458,554; heart failure (HF): N=977,323). First, we estimated genetic correlations and utilized genomic structural equation modeling to identify a common genetic factor for PTSD and CVD. Next, we assessed biological, behavioural, and psychosocial factors as potential mediators. Finally, we employed multivariable Mendelian randomization to examine causal pathways between PTSD and CVD, incorporating the same potential mediators.
    Results: Significant genetic correlations were found between PTSD and CAD, HT, and HF (
    Conclusions: In addition to shared genetic liability between PTSD and CVD, we present strong evidence for causal effects of PTSD on CVD. Crucially, we implicate specific lifestyle and biological mediators (insomnia, substance use, inflammation) which has important implications for interventions to prevent CVD in PTSD patients.
    Language English
    Publishing date 2024-03-22
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.03.20.24304533
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  10. Article ; Online: Longitudinal Patterns of Multimorbidity in Gulf War Era Veterans With and Without Gulf War Illness.

    Thompson, Andrew D / Petry, Sarah E / Hauser, Elizabeth R / Boyle, Stephen H / Pathak, Gita A / Upchurch, Julie / Press, Ashlyn / Johnson, Melissa G / Sims, Kellie J / Williams, Christina D / Gifford, Elizabeth J

    Journal of aging and health

    2024  , Page(s) 8982643241245163

    Abstract: Objectives: ...

    Abstract Objectives:
    Language English
    Publishing date 2024-04-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1045392-1
    ISSN 1552-6887 ; 0898-2643
    ISSN (online) 1552-6887
    ISSN 0898-2643
    DOI 10.1177/08982643241245163
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    In stock of ZB MED Cologne/Königswinter

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