Publications by authors named "Pierre Fontanillas"

Article Synopsis
  • This study investigated the genetic links between musical rhythm traits and language-related traits, particularly dyslexia, using data from large genetic samples.
  • Researchers found 16 genetic regions that contribute to both rhythm impairment and dyslexia, indicating a shared biological foundation.
  • The study suggests that the neural connections related to both rhythm and language processing may be influenced by genetics, offering insights into the evolutionary connections between music and language.
View Article and Find Full Text PDF
Article Synopsis
  • * The research identified 12 significant genetic markers linked to MG, with certain markers associated specifically with early-onset (under 50) and late-onset (50 and older) forms of the disease.
  • * Additionally, the study highlighted the potential role of genetic factors in determining the age of disease onset and demonstrated that polygenic risk scores could help predict MG status, explaining over 4% of the variation in disease presence.
View Article and Find Full Text PDF
Article Synopsis
  • * A study of 445 PD patients revealed a higher diversity of microbes compared to 221 controls, with specific bacterial overabundances and depletions identified as key signatures of PD.
  • * Findings indicate that certain oral microbiome characteristics could act as potential biomarkers for early PD detection, particularly in relation to non-motor symptoms linked to the peripheral nervous system.
View Article and Find Full Text PDF

Individual differences in self-control predict many health and life outcomes. Building on twin literature, we used genomic structural equation modeling to test the hypothesis that genetic influences on executive function and impulsivity predict independent variance in mental health and other outcomes. The impulsivity factor (comprising urgency, lack of premeditation, and other facets) was only modestly genetically correlated with low executive function ( =.

View Article and Find Full Text PDF

Dyslexia is a learning difficulty with neurodevelopmental origins, manifesting as reduced accuracy and speed in reading and spelling. It is substantially heritable and frequently co-occurs with other neurodevelopmental conditions, particularly attention deficit-hyperactivity disorder (ADHD). Here, we investigate the genetic structure underlying dyslexia and a range of psychiatric traits using results from genome-wide association studies of dyslexia, ADHD, autism, anorexia nervosa, anxiety, bipolar disorder, major depressive disorder, obsessive compulsive disorder, schizophrenia, and Tourette syndrome.

View Article and Find Full Text PDF
Article Synopsis
  • Cannabis is among the most widely used drugs around the world, and its decriminalization has led to increased consumption rates.
  • Genome-wide association studies (GWAS) on lifetime and frequency of cannabis use revealed genetic links to specific loci associated with these traits, indicating that both are heritable.
  • The findings suggest that genetic predispositions for cannabis use correlate with other substance use and mood disorders, highlighting the importance of understanding these genetic factors in the context of cannabis use disorder.
View Article and Find Full Text PDF

Coffee is one of the most widely consumed beverages. We performed a genome-wide association study (GWAS) of coffee intake in US-based 23andMe participants (N = 130,153) and identified 7 significant loci, with many replicating in three multi-ancestral cohorts. We examined genetic correlations and performed a phenome-wide association study across hundreds of biomarkers, health, and lifestyle traits, then compared our results to the largest available GWAS of coffee intake from the UK Biobank (UKB; N = 334,659).

View Article and Find Full Text PDF
Article Synopsis
  • The LRRK2 G2019S variant is the leading cause of hereditary Parkinson's disease, studied in a large cohort of carriers and controls over 3.5 years, revealing significant insights into disease progression and symptoms.
  • G2019S carriers face a 49% chance of developing PD by age 80, with a 10-fold increased risk compared to non-carriers, and an even higher risk for those with elevated polygenic risk scores.
  • The research highlights that G2019S-associated PD is a slower-progressing form, primarily affecting motor functions while showing fewer non-motor symptoms, suggesting a need to adjust current diagnostic criteria for earlier detection.
View Article and Find Full Text PDF

Background: Alcohol consumption is associated with numerous negative social and health outcomes. These associations may be direct consequences of drinking, or they may reflect common genetic factors that influence both alcohol consumption and other outcomes.

Methods: We performed exploratory phenome-wide association studies (PheWAS) of three of the best studied protective single nucleotide polymorphisms (SNPs) in genes encoding ethanol metabolising enzymes (ADH1B: rs1229984-T, rs2066702-A; ADH1C: rs698-T) using up to 1109 health outcomes across 28 phenotypic categories (e.

View Article and Find Full Text PDF

Rhythm and language-related traits are phenotypically correlated, but their genetic overlap is largely unknown. Here, we leveraged two large-scale genome-wide association studies performed to shed light on the shared genetics of rhythm (N=606,825) and dyslexia (N=1,138,870). Our results reveal an intricate shared genetic and neurobiological architecture, and lay groundwork for resolving longstanding debates about the potential co-evolution of human language and musical traits.

View Article and Find Full Text PDF
Article Synopsis
  • A genome-wide association study (GWAS) involving 130,153 participants from 23andMe identified 7 genetic loci related to coffee intake, which were also found in other diverse groups.
  • When comparing findings with a larger UK Biobank sample (334,659), significant differences in genetic correlations were observed, particularly regarding health traits and cognition.
  • The study highlights how varying cultural and behavioral contexts in different cohorts can impact the relationship between genetics and coffee consumption.
View Article and Find Full Text PDF

Impulsivity is a multidimensional heritable phenotype that broadly refers to the tendency to act prematurely and is associated with multiple forms of psychopathology, including substance use disorders. We performed genome-wide association studies (GWAS) of eight impulsive personality traits from the Barratt Impulsiveness Scale and the short UPPS-P Impulsive Personality Scale (N = 123,509-133,517 23andMe research participants of European ancestry), and a measure of Drug Experimentation (N = 130,684). Because these GWAS implicated the gene CADM2, we next performed single-SNP phenome-wide studies (PheWAS) of several of the implicated variants in CADM2 in a multi-ancestral 23andMe cohort (N = 3,229,317, European; N = 579,623, Latin American; N = 199,663, African American).

View Article and Find Full Text PDF

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis.

View Article and Find Full Text PDF

Basal cell carcinoma and squamous cell carcinoma are the most common skin cancers, and have genetic overlap with melanoma, pigmentation traits, autoimmune diseases, and blood biochemistry biomarkers. In this multi-trait genetic analysis of over 300,000 participants from Europe, Australia and the United States, we reveal 78 risk loci for basal cell carcinoma (19 previously unknown and replicated) and 69 for squamous cell carcinoma (15 previously unknown and replicated). The previously unknown risk loci are implicated in cancer development and progression (e.

View Article and Find Full Text PDF

Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia.

View Article and Find Full Text PDF

Objective: To develop a clinico-genetic predictor of impulse control disorder (ICD) risk in Parkinson's disease (PD).

Methods: In 5770 individuals from three PD cohorts (the 23andMe, Inc.; the University of Pennsylvania [UPenn]; and the Parkinson's Progression Markers Initiative [PPMI]), we used a discovery-replication strategy to develop a clinico-genetic predictor for ICD risk.

View Article and Find Full Text PDF

A substantial proportion of the adult United States population with type 2 diabetes (T2D) are undiagnosed, calling into question the comprehensiveness of current screening practices, which primarily rely on age, family history, and body mass index (BMI). We hypothesized that a polygenic score (PGS) may serve as a complementary tool to identify high-risk individuals. The T2D polygenic score maintained predictive utility after adjusting for family history and combining genetics with family history led to even more improved disease risk prediction.

View Article and Find Full Text PDF

We deployed an online pain sensitivity questionnaire (PSQ) and an at-home version of the cold pressor test (CPT) in a large genotyped cohort. We performed genome-wide association studies on the PSQ score (25,321 participants) and CPT duration (6853). We identified one new genome-wide significant locus associated with the PSQ score, which was located in the TSSC1 (also known as EIPR1 ) gene (rs58194899, OR = 0.

View Article and Find Full Text PDF

The growing prevalence of opioid use disorder (OUD) constitutes an urgent health crisis. Ample evidence indicates that risk for OUD is heritable. As a surrogate (or proxy) for OUD, we explored the genetic basis of using prescription opioids 'not as prescribed'.

View Article and Find Full Text PDF

Genomic discovery and characterization of risk loci for type 2 diabetes (T2D) have been conducted primarily in individuals of European ancestry. We conducted a multiethnic genome-wide association study of T2D among 53,102 cases and 193,679 control subjects from African, Hispanic, Asian, Native Hawaiian, and European population groups in the Population Architecture Genomics and Epidemiology (PAGE) and Diabetes Genetics Replication and Meta-analysis (DIAGRAM) Consortia. In individuals of African ancestry, we discovered a risk variant in the gene (rs11466334, risk allele frequency (RAF) = 6.

View Article and Find Full Text PDF
Article Synopsis
  • This research identifies 290 genetic factors linked to ovarian ageing by analyzing the age at natural menopause in 200,000 European women, highlighting how genetics can influence reproductive lifespan.* -
  • The study reveals that these genetic variants are connected to DNA damage response processes that impact ovarian reserve and depletion rates, suggesting potential therapeutic targets.* -
  • Manipulating these pathways in experimental models showed promise in boosting fertility and extending reproductive longevity, while also indicating benefits and risks for women's overall health, such as improved bone health but increased cancer risk.*
View Article and Find Full Text PDF

Background: Tobacco smoking and alcohol intake have been identified in observational studies as potentially protective factors against developing Parkinson's disease (PD); the impact of body mass index (BMI) on PD risk is debated. Whether such epidemiological associations are causal remains unclear. Mendelian randomsation (MR) uses genetic variants to explore the effects of exposures on outcomes; potentially reducing bias from residual confounding and reverse causation.

View Article and Find Full Text PDF

Objective: The aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease.

Methods: We performed the first genomewide association study of penetrance and age-at-onset of Parkinson's disease in LRRK2 mutation carriers (776 cases and 1,103 non-cases at their last evaluation). Cox proportional hazard models and linear mixed models were used to identify modifiers of penetrance and age-at-onset of LRRK2 mutations, respectively.

View Article and Find Full Text PDF

We trained and validated risk prediction models for the three major types of skin cancer- basal cell carcinoma (BCC), squamous cell carcinoma (SCC), and melanoma-on a cross-sectional and longitudinal dataset of 210,000 consented research participants who responded to an online survey covering personal and family history of skin cancer, skin susceptibility, and UV exposure. We developed a primary disease risk score (DRS) that combined all 32 identified genetic and non-genetic risk factors. Top percentile DRS was associated with an up to 13-fold increase (odds ratio per standard deviation increase >2.

View Article and Find Full Text PDF