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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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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
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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
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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 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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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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Article ; Online: Multiomics Investigation of Hypertension and White Matter Hyperintensity as a Source of Vascular Dementia or a Comorbidity to Alzheimer's Disease.

Pathak, Gita A / Barber, Robert C / Phillips, Nicole R

Current Alzheimer research

2021 Volume 18, Issue 2, Page(s) 171–177

Abstract: Background: Age-related comorbidity is common and significantly increases the burden for the healthcare of the elderly. Alzheimer's disease (AD) and hypertension are the two most prevalent age-related conditions and are highly comorbid. While ... ...

Abstract	Background: Age-related comorbidity is common and significantly increases the burden for the healthcare of the elderly. Alzheimer's disease (AD) and hypertension are the two most prevalent age-related conditions and are highly comorbid. While hypertension is a risk factor for vascular dementia (VD), hypertension with AD (ADHyp+) is often characterized as probable vascular dementia. In the absence of imaging and other diagnostic tests, differentiating the two pathological states is difficult. Objective: Our goals are to (1) identify differences in CSF-based vascular dementia profiles, if any, between individuals who have AD only (ADHyp-), and individuals with ADHyp+ using CSF levels of amyloid β, tau and p-tau, and (2) compare genome-wide DNA profiles of ADHyp- and ADHyp+ with an unaffected control population. Method: Genotype and clinical data were used to compare healthy controls to AD Hyp- vs. AD Hyp+. We compared the CSF biomarkers followed by evaluating genome wide profiles in three groups, and mapped SNPs to genes based on position and lowest p-value. The significant genes were examined for co-expression and known disease networks. Results: We found no differences between Aβ, tau and p-tau levels between ADHyp- and ADHyp+. We found TOMM40 to be associated with ADHyp- as expected but not with ADHyp+. Interestingly, SLC9A3R2 polymorphism was associated with ADHyp+, and significant gene expression changes were observed for neighboring genes. Conclusion: Through this exploratory study using a novel cohort stratification design, we highlight the genetic differences in clinically similar phenotypes, indicating the utility of genetic profiling in aiding differential diagnosis of ADHyp+ and VD.
MeSH term(s)	Aged ; Alzheimer Disease/cerebrospinal fluid ; Alzheimer Disease/diagnosis ; Alzheimer Disease/pathology ; Amyloid/cerebrospinal fluid ; Comorbidity ; Dementia, Vascular/cerebrospinal fluid ; Dementia, Vascular/diagnosis ; Female ; Genome-Wide Association Study ; Humans ; Hypertension/complications ; Male ; Membrane Transport Proteins/genetics ; Middle Aged ; Phosphoproteins/genetics ; Sodium-Hydrogen Exchangers/genetics ; White Matter/pathology ; tau Proteins/cerebrospinal fluid
Chemical Substances	Amyloid ; Membrane Transport Proteins ; Phosphoproteins ; Sodium-Hydrogen Exchangers ; TOMM40 protein, human ; sodium-hydrogen exchanger regulatory factor ; tau Proteins
Language	English
Publishing date	2021-10-08
Publishing country	United Arab Emirates
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	2205170-3
ISSN	1875-5828 ; 1567-2050
ISSN (online)	1875-5828
ISSN	1567-2050
DOI	10.2174/1567205018666210422133547
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Article: Household income does not affect the pleiotropy of schizophrenia genetic liability with mental and physical health outcomes.

Kouakou, Manuela R / Cabrera-Mendoza, Brenda / Pathak, Gita A / Cannon, Tyrone D / Polimanti, Renato

medRxiv : the preprint server for health sciences

2023

Abstract: Background and hypothesis: Individuals with schizophrenia (SCZ) suffer from comorbidities that substantially reduce their life expectancy. Socioeconomic inequalities could contribute to many of the negative health outcomes associated with SCZ.: Study ... ...

Abstract	Background and hypothesis: Individuals with schizophrenia (SCZ) suffer from comorbidities that substantially reduce their life expectancy. Socioeconomic inequalities could contribute to many of the negative health outcomes associated with SCZ. Study design: We investigated genome-wide datasets related to SCZ (52,017 cases and 75,889 controls) from the Psychiatric Genomics Consortium, household income (HI; N=361,687) from UK Biobank, and 2,202 medical endpoints assessed in up to 342,499 FinnGen participants. A phenome-wide genetic correlation analysis of SCZ and HI was performed, also assessing whether SCZ genetic correlations were influenced by HI effect on SCZ. Additionally, SCZ and HI direct effects on medical endpoints were estimated using multivariable Mendelian randomization (MR). Study results: SCZ and HI showed overlapping genetic correlations with 70 traits (p<2.89×10 Conclusions: The effect of SCZ genetic liability on mental and physical health may not be strongly affected by socioeconomic differences. This suggests that SCZ-specific strategies are needed to reduce negative health outcomes affecting patients and high-risk individuals.
Language	English
Publishing date	2023-09-26
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.09.25.23296085
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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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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
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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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