A5044784338- Genetic Associations and Epidemiology
- Pharmacogenetics and Drug Metabolism
- Schizophrenia research and treatment
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Drug Transport and Resistance Mechanisms
- Endometriosis Research and Treatment
- Epigenetics and DNA Methylation
- Human-Animal Interaction Studies
- Neuroendocrine regulation and behavior
- Attention Deficit Hyperactivity Disorder
- Pharmacological Effects and Toxicity Studies
- Nutrition, Genetics, and Disease
- Antiplatelet Therapy and Cardiovascular Diseases
- Health, Environment, Cognitive Aging
- Hearing, Cochlea, Tinnitus, Genetics
- Autism Spectrum Disorder Research
- Bipolar Disorder and Treatment
- Birth, Development, and Health
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- Computational Drug Discovery Methods
- Antibiotics Pharmacokinetics and Efficacy
- MicroRNA in disease regulation
- Diabetes Treatment and Management
Yale University
2020-2025
Universitat de Barcelona
2021-2025
VA Connecticut Healthcare System
2020-2024
Connecticut Health Foundation
2020-2023
Hospital Universitario de La Princesa
2017-2023
Universidad Autónoma de Madrid
2017-2021
Semmelweis University
2016-2020
Institute for Soil Sciences
2017-2020
Eötvös Loránd University
2017-2020
Zero to Three
2020
Abstract Most genome-wide association studies (GWAS) of major depression (MD) have been conducted in samples European ancestry. Here we report a multi-ancestry GWAS MD, adding data from 21 cohorts with 88,316 MD cases and 902,757 controls to previously reported data. This analysis used range measures define included African (36% effective sample size), East Asian (26%) South (6%) ancestry Hispanic/Latin American participants (32%). The identified 53 significantly associated novel loci. For...
Importance Endometriosis is a common chronic gynecologic pathology with large negative impact on women’s health. Beyond severe physical symptoms, endometriosis also associated several psychiatric comorbidities, including depression and anxiety. Objective To investigate whether pleiotropy contributes to the association of depression, anxiety, eating disorders. Design, Setting, Participants This genetic study was performed between September 13, 2021, June 24, 2022, in 202 276 unrelated female...
Abstract As recreational use of cannabis is being decriminalized in many places and medical widely sanctioned, there are growing concerns about increases disorder (CanUD), which associated with numerous comorbidities. Here we performed a genome-wide association study CanUD the Million Veteran Program (MVP), followed by meta-analysis 1,054,365 individuals ( n cases = 64,314) from four broad ancestries designated reference panel used for assignment (European 886,025, African 123,208, admixed...
Several cytochrome P450 (CYP) CYP3A polymorphisms were associated with reduced enzyme function. We aimed to evaluate the influence of these alleles on pharmacokinetic parameters (PK) several substrates. included 251 healthy volunteers who received a single dose ambrisentan, atorvastatin, imatinib, aripiprazole, fentanyl, amlodipine, donepezil, olanzapine, fesoterodine, or quetiapine. The genotyped for CYP3A4 and CYP3A5 by qPCR. To compare PK across studies, measurements corrected mean each...
Abstract Hearing difficulty (HD) is a major health burden in older adults. While ageing-related changes the peripheral auditory system play an important role, genetic variation associated with brain structure and function could also be involved HD predisposition. We analysed large-scale genome-wide association study (GWAS; ntotal = 501 825, 56% females) GWAS data related to 3935 imaging-derived phenotypes (IDPs) assessed up 33 224 individuals (52% using multiple MRI modalities. To...
Abstract Sertraline is a selective serotonin reuptake inhibitor widely metabolized in the liver by cytochrome P450 ( CYP ) enzymes. Besides, it P‐glycoprotein substrate. Moreover, transporters and receptors are involved its efficacy safety. The aim of this study was to evaluate role polymorphisms metabolizing enzymes, on pharmacokinetics, pharmacodynamics tolerability sertraline healthy volunteers. Forty‐six volunteers (24 men 22 women) receiving 100‐mg single oral dose were genotyped for 17...
Abstract P‐glycoprotein, encoded by ABCB 1 , is an ATP ‐dependent drug efflux pump which exports substances outside the cell. Some studies described connections between C3435T polymorphism T allele and lower P‐glycoprotein expression; therefore, homozygous T/T could show higher plasma levels. Our aim was to evaluate effect of on pharmacokinetics 4 antipsychotics (olanzapine, quetiapine, risperidone aripiprazole) antidepressants (trazodone, sertraline, agomelatine citalopram). The study...
Fentanyl is an agonist of the μ-opioid receptor commonly used in treatment moderate-severe pain. In order to study whether pharmacogenetics explains some variability response fentanyl, several genes related fentanyl receptors, transporters and metabolic enzymes have been analysed. Thirty-five healthy volunteers (19 men 16 women) receiving a single 300 μg oral dose were genotyped for 9 polymorphisms cytochrome P450 (CYP) (CYP3A4 CYP3A5), ATP-binding cassette subfamily B member 1 (ABCB1),...
Background: Agomelatine is an agonist of the melatoninergic receptors used for treatment depression. Our aim was to evaluate effect genetic polymorphisms in metabolising enzymes and P-glycoprotein transporter on agomelatine pharmacokinetics pharmacodynamics. Methods: Twenty-eight healthy volunteers receiving a single 25 mg oral dose agomelatine, were genotyped nine cytochrome P450 ( CYP1A2, CYP2C9 CYP2C19) adenosine triphosphate-binding cassette subfamily B member 1 ABCB1), by real-time...
A simple and sensitive liquid chromatography-tandem mass spectrometry method was developed validated in human plasma for the simultaneous determination of aripiprazole (ARI) its metabolite dehydro-aripiprazole (DARI); olanzapine (OLA), risperidone (RIS), paliperidone (PAL), quetiapine (QUE), clozapine (CLO) caffeine (CAF). CAF is included to because it can have an influence on drug metabolism due competitive inhibition. The above mentioned compounds their isotope-labeled internal standards...
We characterized the genetic architecture of attention-deficit hyperactivity disorder-substance use disorder (ADHD-SUD) relationship by investigating correlation, causality, pleiotropy, and common polygenic risk. Summary statistics from genome-wide association studies (GWAS) were used to investigate ADHD (Neff=51,568), cannabis (CanUD, Neff=161,053), opioid (OUD, Neff=57,120), problematic alcohol (PAU, Neff=502,272), tobacco (PTU, Neff=97,836). ADHD, CanUD, OUD GWAS meta-analyses included...
ABSTRACT We leveraged information from more than 1.2 million participants to investigate the genetics of anxiety disorders across five continental ancestral groups. Ancestry-specific and cross-ancestry genome-wide association studies identified 51 anxiety-associated loci, 39 which are novel. Additionally, polygenic risk scores derived individuals European descent were associated with in African, Admixed-American, East Asian The heritability was enriched for genes expressed limbic system,...
Abstract Background The Million Veteran Program (MVP) participants represent 100 years of US history, including significant social and demographic changes over time. Our study assessed two aspects the MVP: (i) longitudinal in population diversity (ii) how these can be accounted for genome-wide association studies (GWAS). To investigate aspects, we divided MVP into five birth cohorts ( N -range = 123,888 [born from 1943 to 1947] 136,699 1948 1953]). Results Ancestry groups were defined by...
Importance Although psychological traumas have been associated with endometriosis, limited information is available regarding the role of trauma type and genetic predisposition. Objective To examine relationship between traumatic experiences endometriosis using observational genetically informed analyses. Design, Setting, Participants For this case-control study, analyses were performed May 13, 2023, September 30, 2024. Genotypic phenotypic was combined from UK Biobank individual-level data...
Variations in human infants' attachment behavior are associated with single nucleotide polymorphisms (SNPs) the oxytocin receptor (OXTR) gene, suggesting a genetic component to infant-mother attachment. However, due relatedness of infants and their mothers, it is difficult separate effects OXTR genotype from environmental mothers' possibly affecting parental behavior. The apparent functional analogy between child-parent dog-owner relationship, however, offers way disentangle these factors...