Publications by authors named "Cristina Sanchez-Mora"

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  • The study investigates genetic variants linked to early-onset ischemic stroke (EOS) in individuals aged 18-59, contrasting with previous research focused on late-onset stroke (LOS).
  • Researchers conducted a meta-analysis involving 16,730 EOS cases and 599,237 controls to identify significant genetic associations and compared results between EOS and LOS.
  • Findings include two genetic variants associated with blood subgroups that show a stronger connection to EOS than LOS, indicating that genetic factors promoting blood clotting are particularly influential in early-onset cases.
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  • ADHD is a common neurodevelopmental disorder linked to genetic and environmental factors, often leading to negative life consequences like lower income and poor education.
  • This study employed Mendelian randomization to establish causal relationships between ADHD and various traits, using extensive genetic data and sensitivity analyses to ensure accuracy.
  • Key findings indicate ADHD increases risks for smoking, depression, reduced income, more sexual partners, higher predicted body weight, and increased TV watching time, while also suggesting a bidirectional relationship with the age of first sexual intercourse.
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  • Childhood aggressive behavior (AGG) is significantly heritable, with around 50% of its variation attributed to genetics, as shown in a study analyzing data from over 87,000 children aged 1.5 to 18 years; however, no genome-wide significant SNPs were identified.* -
  • Three significant genes (ST3GAL3, PCDH7, and IPO13) linked to educational traits were found, and genetic analysis revealed moderate to strong correlations between AGG and various psychiatric traits, with notable weak correlations concerning teacher assessments.* -
  • The research also showed negative genetic correlations of aggression with cognitive abilities and age at first birth, alongside strong correlations with smoking behaviors, highlighting complex genetic interactions within childhood aggression.*
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Compelling evidence supports alterations in gut microbial diversity, bacterial composition, and/or relative abundance of several bacterial taxa in attention-deficit/hyperactivity disorder (ADHD). However, findings for ADHD are inconsistent among studies, and specific gut microbiome signatures for the disorder remain unknown. Given that previous studies have mainly focused on the pediatric form of the disorder and involved small sample sizes, we conducted the largest study to date to compare the gastrointestinal microbiome composition in 100 medication-naïve adults with ADHD and 100 sex-matched healthy controls.

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With the rise of genome-wide association studies (GWAS), the analysis of typical GWAS data sets with thousands of single-nucleotide polymorphisms (SNPs) has become crucial in biomedicine research. Here, we propose a new method to identify SNPs related to disease in case-control studies. The method, based on genetic distances between individuals, takes into account the possible population substructure, and avoids the issues of multiple testing.

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  • Bipolar disorder has a genetic basis and complex causes; a large study compared nearly 42,000 bipolar patients with over 371,000 healthy controls, revealing 64 genomic regions linked to the disorder.
  • The findings showed that risk-related genes are heavily associated with brain functions, particularly in areas like the prefrontal cortex and hippocampus, and they include targets for various medications.
  • The research also distinguished between bipolar disorder types I and II, revealing a close genetic relationship and highlighting 15 specific genes that could lead to new treatment options and further investigations.
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Previous studies have shown that the gene encoding the adhesion G protein-coupled receptor L3 (ADGRL3; formerly latrophilin 3, LPHN3) is associated with Attention-Deficit/Hyperactivity Disorder (ADHD). Conversely, no studies have investigated the anatomical or functional brain substrates of ADGRL3 risk variants. We examined here whether individuals with different ADGRL3 haplotypes, including both patients with ADHD and healthy controls, showed differences in brain anatomy and function.

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  • * Recent findings highlight a strong genetic basis for ADHD, with genome-wide association studies (GWAS) uncovering significant genetic variants, though understanding their functional roles remains complex.
  • * Integrative research combining genomic and transcriptomic data is emerging, aiming to enhance insights into ADHD's genetic architecture, despite existing challenges, paving the way for potential personalized treatment approaches.
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  • - ADHD is found in nearly 25% of individuals with substance use disorder (SUD), leading to more severe cases and increased risk for other mental health issues.
  • - This study investigates the genetic links between ADHD and five SUD-related traits using data from both a sample of 989 individuals and existing genome-wide association studies (GWAS).
  • - Results show a shared genetic background between ADHD and SUD, implying that ADHD may increase the risk of developing SUD, and suggest the importance of screening for ADHD in SUD patients for better treatment outcomes.
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Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder with an estimated heritability of around 70%. Although the largest genome-wide association study (GWAS) meta-analysis on ADHD identified independent loci conferring risk to the disorder, the molecular mechanisms underlying the genetic basis of the disorder remain to be elucidated. To explore ADHD biology, we ran a two-step transcriptome profiling in peripheral blood mononuclear cells (PBMCs) of 143 ADHD subjects and 169 healthy controls.

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Drug dependence is a neuropsychiatric condition that involves genetic, epigenetic and environmental factors. Allele-specific methylation (ASM) is a common and stable epigenetic mechanism that involves genetic variants correlating with differential levels of methylation at CpG sites. We selected 182 single-nucleotide polymorphisms (SNPs) described to influence cis ASM in human brain regions to evaluate their possible contribution to drug dependence susceptibility.

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Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder that often persists into adulthood. There is growing evidence that epigenetic dysregulation participates in ADHD. Given that only a limited number of epigenome-wide association studies (EWASs) of ADHD have been conducted so far and they have mainly focused on pediatric and population-based samples, we performed an EWAS in a clinical sample of adults with ADHD.

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Attention deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder characterized by age-inappropriate symptoms of inattention, impulsivity, and hyperactivity that persist into adulthood in the majority of the diagnosed children. Despite several risk factors during childhood predicting the persistence of ADHD symptoms into adulthood, the genetic architecture underlying the trajectory of ADHD over time is still unclear. We set out to study the contribution of common genetic variants to the risk for ADHD across the lifespan by conducting meta-analyses of genome-wide association studies on persistent ADHD in adults and ADHD in childhood separately and jointly, and by comparing the genetic background between them in a total sample of 17,149 cases and 32,411 controls.

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  • Emotional lability, characterized by rapid mood swings, is closely linked to ADHD and contributes significantly to impairment and poor treatment outcomes.
  • A genome-wide association study (GWAS) involving 563 adults with ADHD did not find strong genetic links but indicated involvement of genes related to neurotransmission and cognitive function.
  • The study's findings suggest a potential genetic basis for emotional lability, supporting the idea that emotion dysregulation might be a common issue across various psychiatric disorders, warranting more research in this area.
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  • * The analysis discovered 30 significant genetic loci linked to bipolar disorder, including 20 that hadn't been previously identified, which involve genes related to ion channels and neurotransmitter systems.
  • * The study also showed that Bipolar I disorder has a genetic connection to schizophrenia, particularly linked to psychosis, while Bipolar II disorder is more closely related to major depressive disorder, shedding light on potential biological mechanisms and clinical implications.
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Genetic factors are strongly implicated in the susceptibility to develop externalizing syndromes such as attention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder, conduct disorder, and substance use disorder (SUD). Variants in the ADGRL3 (LPHN3) gene predispose to ADHD and predict ADHD severity, disruptive behaviors comorbidity, long-term outcome, and response to treatment. In this study, we investigated whether variants within ADGRL3 are associated with SUD, a disorder that is frequently co-morbid with ADHD.

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Attention-deficit/hyperactivity disorder (ADHD) is a severely impairing neurodevelopmental disorder with a prevalence of 5% in children and adolescents and of 2.5% in adults. Comorbid conditions in ADHD play a key role in symptom progression, disorder course and outcome.

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Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent neurodevelopmental disorders in childhood and persists into adulthood in 40-65% of cases. Given the polygenic and heterogeneous architecture of the disorder and the limited overlap between genetic studies, there is a growing interest in epigenetic mechanisms, such as microRNAs, that modulate gene expression and may contribute to the phenotype. We attempted to clarify the role of microRNAs in ADHD at a molecular level through the first genome-wide integrative study of microRNA and mRNA profiles in peripheral blood mononuclear cells of medication-naive individuals with ADHD and healthy controls.

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  • Cannabis use is prevalent among young people, and earlier initiation is linked to negative life outcomes, which this study aimed to investigate through heritability and genetic associations.
  • The analysis included 8055 twins and a larger sample of nearly 25,000 individuals, revealing that age at first cannabis use has a heritability estimate of 38%, with environmental factors also playing a substantial role.
  • The study identified associations with specific genetic variants in the ATP2C2 gene, although these findings were not replicated; nevertheless, they suggest a possible genetic influence on the timing of cannabis use.
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  • A study investigated the genetic overlap between 25 brain disorders using data from over 1.2 million individuals, finding that psychiatric disorders share more genetic risk compared to neurological disorders, which seem more distinct.
  • The research identified significant relationships between these disorders and various cognitive measures, suggesting shared underlying traits.
  • Simulations were conducted to understand how factors like sample size and diagnosis accuracy influence genetic correlations, emphasizing the role of common genetic variations in the risk of brain disorders.
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  • The study investigates genetic factors linked to substance dependence, particularly focusing on cocaine dependence using a sample from Spain.
  • The researchers analyzed three specific genetic variations (SNPs) previously associated with substance dependence and found a significant replication of one variant (rs2952621) in their cohort.
  • Results from a meta-analysis combining their findings with previous studies confirmed the association, suggesting that genetic influences play a crucial role in substance dependence, necessitating further research.
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  • * A study examined genetic factors influencing MPH efficacy in 173 children with ADHD, identifying several promising genetic markers (SNPs) associated with treatment response.
  • * The research highlighted genes linked to nervous system development and identified 15 potential genetic signals for further investigation, paving the way for better understanding of MPH treatment effects.
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