Noèlia Fernàndez-Castillo

Noèlia Fernàndez-Castillo
University of Barcelona | UB · Department of Genetics, Microbiology and statistics

PhD Genetics

About

117
Publications
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Introduction
I work on the genetics and epigenetics of psychiatric disorders, such as Addictions, Autism, ADHD and aggressive behaviour. Through genomic and epigenomic studies we identify genetic risk factors involved. Through in vitro and animal studies we further understand the underlying mechanisms and their contribution to these disorders.

Publications

Publications (117)
Article
Full-text available
Genetic variants in YWHAZ contribute to psychiatric disorders such as autism spectrum disorder and schizophrenia, and have been related to an impaired neurodevelopment in humans and mice. Here, we have used zebrafish to investigate the mechanisms by which YWHAZ contributes to neurodevelopmental disorders. We observed that ywhaz expression was pan-n...
Article
Full-text available
Food addiction is characterized by a loss of behavioral control over food intake and is associated with obesity and other eating disorders. The mechanisms underlying this behavioral disorder are largely unknown. We aim to investigate the changes in miRNAs expression promoted by food addiction in animals and humans and their involvement in the mecha...
Article
Full-text available
Psychiatric disorders are highly prevalent and display considerable clinical and genetic overlap. Dopaminergic and serotonergic neurotransmission have been shown to play an important role in many psychiatric disorders. Here we aim to assess the genetic contribution of these systems to eight psychiatric disorders (attention-deficit hyperactivity dis...
Article
Full-text available
Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. We searched for genes involved in Mendelian disorders presenting with ADHD symptoms in the Online Mendelian Inheritance in Man (OMI...
Article
Full-text available
Cocaine addiction causes serious health problems, and no effective treatment is available yet. We previously identified a genetic risk variant for cocaine addiction in the PLCB1 gene and found this gene upregulated in postmortem brains of cocaine abusers and in human dopaminergic neuron-like cells after an acute cocaine exposure. Here, we functiona...
Article
Psychiatric disorders affect 29% of the global population at least once in the lifespan, and genetic studies have proved a shared genetic basis among them, although the underlying molecular mechanisms remain largely unknown. DNA methylation plays an important role in complex disorders and, remarkably, enrichment of common genetic variants influenci...
Article
Full-text available
Drug addiction, one of the major health problems worldwide, is characterized by the loss of control in drug intake, craving, and withdrawal. At the individual level, drugs of abuse produce serious consequences on health and have a negative impact on the family environment and on interpersonal and work relationships. At a wider scale, they have sign...
Preprint
Full-text available
Genetic risk variants in YWHAZ , encoding 14-3-ζ, have been found to contribute to psychiatric disorders such as autism spectrum disorder and schizophrenia, and have been related to an impaired neurodevelopment in humans and mice. Here, we have used a zebrafish model to further understand the mechanisms by which YWHAZ contribute to neurodevelopment...
Article
Full-text available
Background: Recently, RBFOX1 , a gene encoding an RNA binding protein, has consistently been associated with aggressive and antisocial behavior. Several loci in the gene have been nominally associated with aggression in genome-wide association studies, the risk alleles being more frequent in the general population. We have hence examined the associ...
Article
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 t...
Preprint
Psychiatric disorders are highly prevalent and display considerable clinical and genetic overlap. Dopaminergic and serotonergic neurotransmission have been shown to have an important role in many psychiatric disorders. Here we aim to assess the genetic contribution of these systems to eight psychiatric disorders (ADHD, ANO, ASD, BIP, MD, OCD, SCZ a...
Preprint
BACKGROUND: Cocaine addiction cause serious health problems and no effective treatment is still available. We previously found a genetic risk variant for cocaine addiction in the PLCB1 gene and an upregulation of this gene in postmortem nucleus accumbens of cocaine abusers and in human dopaminergic-like neurons after an acute cocaine exposure. Here...
Article
Full-text available
The 14-3-3 protein family are molecular chaperones involved in several biological functions and neurological diseases. We previously pinpointed YWHAZ (encoding 14-3-3ζ) as a candidate gene for autism spectrum disorder (ASD) through a whole-exome sequencing study, which identified a frameshift variant within the gene (c.659-660insT, p.L220Ffs*18). H...
Article
The nuclear factor of activated T-cells 5 (NFAT5), also known as tonicity-responsive enhancer-binding protein (TonEBP), is a transcription factor that regulates osmoadaptive response in multiple tissues and is highly expressed in the developing central nervous system. A former study reported that NFAT5 activation through hypertonic stress increases...
Article
Full-text available
Attention-Deficit/Hyperactivity Disorder (ADHD) and obesity are frequently comorbid, genetically correlated, and share brain substrates. The biological mechanisms driving this association are unclear, but candidate systems, like dopaminergic neurotransmission and circadian rhythm, have been suggested. Our aim was to identify the biological mechanis...
Article
Full-text available
Human genome-wide association studies (GWAS), transcriptome analyses of animal models, and candidate gene studies have advanced our understanding of the genetic architecture of aggressive behaviors. However, each of these methods presents unique limitations. To generate a more confident and comprehensive view of the complex genetics underlying aggr...
Article
Full-text available
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder caused by an interplay of genetic and environmental factors. Epigenetics is crucial to lasting changes in gene expression in the brain. Recent studies suggest a role for DNA methylation in ADHD. We explored the contribution to ADHD of allele-specific methylation (ASM),...
Article
Full-text available
Cocaine dependence is a complex psychiatric disorder that is highly comorbid with other psychiatric traits. Twin and adoption studies suggest that genetic variants contribute substantially to cocaine dependence susceptibility, which has an estimated heritability of 65-79%. Here we performed a meta-analysis of genome-wide association studies of coca...
Article
Full-text available
Background: Previous research has implicated de novo and inherited truncating mutations in autism-spectrum disorder. We aim to investigate whether the load of inherited truncating mutations contributes similarly to high-functioning autism, and to characterize genes that harbour de novo variants in high-functioning autism. Methods: We performed w...
Preprint
Full-text available
Attention-Deficit/Hyperactivity Disorder (ADHD) is frequently comorbid with other psychiatric disorders and also with somatic conditions, such as obesity. In addition to the clinical overlap, significant genetic correlations have been found between ADHD and obesity as well as body mass index (BMI). The biological mechanisms driving this association...
Article
Full-text available
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 comorbidit...
Article
Background Drug dependence is a complex neuropsychiatric disorder that results from the interaction of genetic and environmental factors. MicroRNAs (miRNAs) are very abundant in the central nervous system and seem to play key roles in the drug-induced plasticity of the brain that likely drives the emergence of addiction. Some studies suggest that S...
Article
Background Drug addiction is a neuropsychiatric disorder where long-lasting changes in gene expression within particular regions of the brain play an important role. Work over the past decade has demonstrated a crucial role for epigenetic mechanisms in driving stable changes in gene expression in several tissues, including the brain. Allele-specifi...
Article
The RBFOX1 gene (or A2BP1) encodes a splicing factor important for neuronal development that has been related to autism spectrum disorder and other neurodevelopmental phenotypes. Evidence suggests that this gene contributes to aggressive behavior. Suggestive associations with RBFOX1 have been identified in genome-wide association studies (GWAS) of...
Article
For most species, aggressive behavior is an evolutionally conserved and genetically specified trait that is essential for survival and fitness. Like many other heritable traits, aggressive behavior has complex genetic bases. Human GWAS studies, genetic mapping and transcriptome analysis of animal models and candidate gene studies in the past decade...
Article
Background Allele-Specific Methylation (ASM) is a common epigenetic mechanism that involves SNPs correlating with differential levels of methylation at CpG sites. Epigenetic changes play a crucial role in driving lasting changes in gene expression in several tissues, including the brain. As alteration of DNA methylation levels has recently been lin...
Conference Paper
Apart from being highly comorbid with other psychiatric disorders, ADHD is also associated with the occurrence of certain somatic conditions. In particular, the relationship between ADHD and obesity has been receiving growing attention. Meta-analytic studies show increased prevalence of obesity in ADHD patients as well as higher rates of ADHD in in...
Preprint
Full-text available
Previous research has implicated de novo (DN) and inherited truncating mutations in autism spectrum disorder (ASD). We aim to investigate whether the load of inherited truncating mutations contribute similarly to high functioning autism (HFA), and to characterise genes harbouring DN variants in HFA. We performed whole-exome sequencing (WES) in 20 H...
Preprint
Full-text available
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder caused by an interplay of genetic and environmental factors. Epigenetics is crucial to lasting changes in gene expression in the brain. Recent studies suggest a role for DNA methylation in ADHD. We explored the contribution to ADHD of allele-specific methylation (ASM),...
Article
Full-text available
Cocaine is one of the most used psychostimulant drugs worldwide. MicroRNAs are post-transcriptional regulators of gene expression that are highly expressed in brain, and several studies have shown that cocaine can alter their expression. In a previous study, we identified several protein-coding genes that are differentially expressed in a dopaminer...
Preprint
Full-text available
Cocaine dependence is a complex neuropsychiatric disorder that is highly comorbid with other psychiatric traits. Association studies suggest that common genetic variants contribute substantially to cocaine dependence susceptibility. Also, increasing evidence supports the role of shared genetic risk factors in the lifetime co-occurrence of psychiatr...
Data
Supplementary Table 1: Human GWAS genes. Supplementary Table 2: Control GWAS genes. Supplementary Table 3: Rodent co-expression modules and genes. Supplementary Table 4: All aggression genes: membership and ranking. Supplementary Table 5: Sample sizes and sources of six psychiatric disorders used in LDSC analysis. Supplementary Table 6: Details of...
Article
Background: Substance dependence is a chronic and relapsing disorder explained by genetic and environmental risk factors. The aim of our study is to replicate previous genome-wide significant (GWS) hits identified in substance dependence in general or in cocaine dependence in particular using an independent sample from Spain. Methods: We evaluat...
Article
Full-text available
Genetic factors involved in the susceptibility to drug addiction still remain largely unknown. MiRNAs seem to play key roles in the drug-induced plasticity of the brain that likely drives the emergence of addiction. In this work we explored the role of miRNAs in drug addiction. With this aim, we selected 62 SNPs located in the 3’UTR of target genes...
Article
The RBFOX1 gene (or A2BP1) encodes a splicing factor important for neuronal development that has been related to autism spectrum disorder and other neurodevelopmental phenotypes. Evidence from complementary sources suggests that this gene contributes to aggressive behavior. Suggestive associations with RBFOX1 have been identified in genome-wide ass...
Article
Full-text available
Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the CACNA1A gene, encoding the α1A subunit of the P/Q-type voltage-gated calcium channel Cav2.1. The va...