Publications by authors named "Luis M Garcia-Marin"

Age-related cataracts is a highly prevalent eye disorder that results in the clouding of the crystalline lens and is one of the leading causes of visual impairment and blindness. The disease is influenced by multiple factors including genetics, prolonged exposure to ultraviolet radiation, and a history of diabetes. However, the extent to which each of these factors contributes to the development of cataracts remains unclear.

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  • Subcortical brain structures play a crucial role in various developmental and psychiatric disorders, and a study analyzed brain volumes in 74,898 individuals, identifying 254 genetic loci linked to these volumes, which accounted for up to 35% of variation.
  • The research included exploring gene expression in specific neural cell types, focusing on genes involved in intracellular signaling and processes related to brain aging.
  • The findings suggest that certain genetic variants not only influence brain volume but also have potential causal links to conditions like Parkinson’s disease and ADHD, highlighting the genetic basis for risks associated with neuropsychiatric disorders.
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  • Subcortical brain structures play a crucial role in various disorders, and a study analyzed the genetic basis of brain volumes in nearly 75,000 individuals of European ancestry, revealing 254 loci linked to these volumes.
  • The research identified significant gene expression in neural cells, relating to brain aging and signaling, and found that polygenic scores could predict brain volumes across different ancestries.
  • The study highlights genetic connections between brain volumes and conditions like Parkinson's disease and ADHD, suggesting specific gene expression patterns could be involved in neuropsychiatric disorders.
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  • Antidepressant effectiveness varies significantly among individuals, with genetics playing a role in how people respond to treatment.
  • A study analyzing data from 135,471 patients identified two new genetic locations (loci) linked to antidepressant non-response and confirmed the ability to predict treatment response using genetic information.
  • The research also explored potential new drug options that could help individuals who don't respond to traditional first-line antidepressants, highlighting the importance of larger sample studies for discovering relevant genetic factors.
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Most patients with late-onset neurodegenerative diseases such as Alzheimer's and Parkinson's have a complex aetiology resulting from numerous genetic risk variants of small effects located across the genome, environmental factors, and the interaction between genes and environment. Over the last decade, genome-wide association studies (GWAS) and post-GWAS analyses have shed light on the polygenic architecture of these diseases, enabling polygenic risk scores (PRS) to estimate an individual's relative genetic liability for presenting with the disease. PRS can screen and stratify individuals based on their genetic risk, potentially years or even decades before the onset of clinical symptoms.

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Background: Depression is a common symptom in Parkinson's disease (PD), resulting from underlying neuropathological processes and psychological factors. However, the extent to which shared genetic risk factors contribute to the relationship between depression and PD is poorly understood.

Objective: To examine the effects of common genetic variants influencing the etiology of PD and depression risk at the genome-wide and local genomic regional level.

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Several studies have examined the association of externalizing polygenic scores (PGS) with externalizing symptoms in samples of European ancestry. However, less is known about the associations of externalizing polygenic vulnerability in relation to phenotypic externalizing disorders among individuals of different ancestries, such as Mexican youth. Here, we leveraged the largest genome-wide association study on externalizing behaviors that included over 1 million individuals of European ancestry to examine associations of externalizing PGS with a range of externalizing disorders in Mexican adolescents, and investigated whether adversity exposure in childhood moderated these associations.

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Background: Factors influencing antidepressant treatment discontinuation are poorly understood. In the present study, we aimed to estimate the prevalence of antidepressant treatment discontinuation and identify demographic characteristics, psychiatric comorbidities, and specific side effects associated with treatment discontinuation.

Methods: We leveraged data from the Australian Genetics of Depression Study (AGDS; N = 20,941) to perform a retrospective cohort study on antidepressant treatment discontinuation.

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Background: We aimed to identify distinct trajectories of tobacco, cannabis, and their co-use among African Americans, and to investigate whether these patterns were associated with polygenic risk scores (PRS) for tobacco and cannabis use.

Method: Participants (N=428 participants; 50.9% male) were initially recruited for an elementary school-based prevention in a Mid-Atlantic city when they were in first grade.

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The recruitment of participants for research studies may be subject to bias. The Prospective Imaging Study of Ageing (PISA) aims to characterize the phenotype and natural history of healthy adult Australians at high future risk of Alzheimer's disease (AD). Participants approached to take part in PISA were selected from existing cohort studies with available genomewide genetic data for both successfully and unsuccessfully recruited participants, allowing us to investigate the genetic contribution to voluntary recruitment, including the genetic predisposition to AD.

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Parkinson's disease (PD) is a late-onset and genetically complex neurodegenerative disorder. Here we sought to identify genes and molecular pathways underlying the associations between PD and the volume of ten brain structures measured through magnetic resonance imaging (MRI) scans. We leveraged genome-wide genetic data from several cohorts, including the International Parkinson's Disease Genomics Consortium (IPDG), the UK Biobank, the Adolescent Brain Cognitive Development (ABCD) study, the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), the Enhancing Neuroimaging Genetics through Meta-Analyses (ENIGMA), and 23andMe.

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  • Frontotemporal dementia (FTD) has unclear genetic reasons for its impact on certain brain regions, prompting researchers to analyze data from genome-wide association studies (GWAS) to find genetic links between FTD and brain structure.
  • The study found five brain regions strongly correlated with FTD risk and identified eight relevant protein-coding genes, indicating shared genetic underpinnings.
  • Additionally, the research revealed that the N-ethylmaleimide sensitive factor (NSF) gene's expression decreases with age in a mouse model, suggesting its significance in understanding FTD's etiology.
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  • The study investigates the causal links between sleep apnea, snoring, and type 2 diabetes, particularly looking at how BMI influences these relationships.
  • Five genetic methods were used in the analysis, revealing significant changes in the risk estimates for diabetes when adjusting for BMI.
  • The findings indicate that the relationship between sleep apnea, snoring, and type 2 diabetes is largely explained by BMI, suggesting indirect effects rather than direct causation.
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Study Objectives: Despite its association with severe health conditions, the etiology of sleep apnea (SA) remains understudied. This study sought to identify genetic variants robustly associated with SA risk.

Methods: We performed a genome-wide association study (GWAS) meta-analysis of SA across five cohorts (NTotal = 523 366), followed by a multi-trait analysis of GWAS (multi-trait analysis of genome-wide association summary statistics [MTAG]) to boost power, leveraging the high genetic correlation between SA and snoring.

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Samples can be prone to ascertainment and attrition biases. The Australian Genetics of Depression Study is a large publicly recruited cohort (n = 20,689) established to increase the understanding of depression and antidepressant treatment response. This study investigates differences between participants who donated a saliva sample or agreed to linkage of their records compared to those who did not.

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Antidepressant medications are frequently used as the first line of treatment for depression. However, their effectiveness is highly variable and influenced by genetic factors. Recently, pharmacogenetic studies, including candidate-gene, genome-wide association studies or polygenic risk scores, have attempted to uncover the genetic architecture of antidepressant response.

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  • Depression is a leading mental health disorder and a major cause of disability globally, prompting a study to explore genetic links between depression and various human traits.
  • Researchers analyzed genetic data and identified 559 traits that have a genetic correlation with depression, with 46 traits potentially causing depression, including factors like lifestyle habits, certain diseases, and obesity.
  • The study suggests that genetic predisposition toward certain conditions, such as pain and inflammation, may increase the risk of depression, offering new areas for future research and prevention strategies.
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Purpose: Parkinson's disease (PD) is a neurodegenerative disorder associated with progressive disability. While the precise aetiology is unknown, there is evidence of significant genetic and environmental influences on individual risk. The Australian Parkinson's Genetics Study seeks to study genetic and patient-reported data from a large cohort of individuals with PD in Australia to understand the sociodemographic, genetic and environmental basis of PD susceptibility, symptoms and progression.

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  • ADHD is a complex disorder that starts in childhood and can continue into adulthood, with its causes and risk factors still not fully understood.
  • Using genetic data from GWAS, researchers identified 37 potential causal links between ADHD and various traits like obesity, iron deficiency anemia, and substance use, indicating a complex interplay of genetics.
  • The study suggests that genetic predispositions related to physical health conditions and social participation may influence the risk of developing ADHD, which could inform future clinical research and treatment approaches.
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Genome-wide association studies (GWAS) have identified genetic variants associated with brain morphology and substance use behaviors (SUB). However, the genetic overlap between brain structure and SUB has not been well characterized. We leveraged GWAS summary data of 71 brain imaging measures and alcohol, tobacco, and cannabis use to investigate their genetic overlap using linkage disequilibrium score regression.

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  • Pneumonia shows varying susceptibility and symptoms among individuals, with host genetic factors playing a significant role according to a large meta-analysis of data from UK Biobank and FinnGen.
  • The study identified two key genetic loci on chromosome 15 linked to pneumonia, along with 18 associated genes across chromosomes 15, 16, and 9, highlighting connections to smoking and cardiovascular health.
  • Findings indicate that genetic variations can predict pneumonia risk, though the effect size is relatively small, suggesting more research is needed to fully understand the genetic factors influencing this respiratory condition.
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Background: Migraine is a complex neurological disorder that is considered the most common disabling brain disorder affecting 14 % of people worldwide. The present study sought to infer potential causal relationships between self-reported migraine and other complex traits, using genetic data and a hypothesis-free approach.

Methods: We leveraged available summary statistics from genome-wide association studies (GWAS) of 1,504 phenotypes and self-reported migraine and inferred pair-wise causal relationships using the latent causal variable (LCV) method.

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Objective: In the present study, we sought to identify causal relationships between obesity and other complex traits and conditions using a data-driven hypothesis-free approach that uses genetic data to infer causal associations.

Methods: We leveraged available summary-based genetic data from genome-wide association studies on 1498 phenotypes and applied the latent causal variable method (LCV) between obesity and all traits.

Results: We identified 110 traits causally associated with obesity.

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