Pierre Fontanillas

Sex-Specific Genetic Architecture and Comorbidities of Alcohol Use Behaviors

This study identifies sex-specific genetic loci and correlations for alcohol use behaviors and their comorbidities using genome-wide association studies.

Genome-wide association studies of lifetime and frequency cannabis use in 131,895 individuals

This paper conducts GWAS on cannabis use frequency and lifetime use, identifies genetic loci, and shows genetic correlations with other traits and diseases.

Genome-wide association study of REM sleep behavior disorder in Parkinson's disease

This study identifies genetic variants associated with REM sleep behavior disorder in Parkinson's disease and explores genetic correlations with neuropsychiatric traits.

Association between polygenic risk and survival in breast cancer patients

This study finds that higher polygenic risk scores for breast cancer are associated with longer survival in patients, suggesting a link between genetic predisposition and less aggressive tumors.

Multivariate genome-wide association analysis of quantitative reading skill and dyslexia improves gene discovery

This study uses a multivariate GWAS approach to identify genetic loci associated with reading ability and dyslexia, finding 35 new genome-wide significant loci and estimating SNP heritability at 24%.

Insights into Ancestral Diversity in Parkinsons Disease Risk: A Comparative Assessment of Polygenic Risk Scores

This study compares polygenic risk scores for Parkinson's disease across seven ancestries, finding varying predictive accuracy and highlighting the need for ancestry-specific models.

Bidirectional relationship between olfaction and Parkinson's disease

This study identifies genetic correlations between hyposmia and Parkinson's disease, finding a strong causal link from PD to hyposmia but weaker evidence for the reverse.

The shared genetic architecture and evolution of human language and musical rhythm

This study investigates the shared genetic architecture between rhythm and dyslexia using large-scale genome-wide association studies.

Genome-wide association study of delay discounting in 134,935 individuals identifies novel loci and transdiagnostic associations across mental and physical health

This study identifies 14 genome-wide significant loci for delay discounting in 134,935 individuals and shows genetic associations with 212 medical conditions.

Analysis of 3.6 million individuals yields minimal evidence of pairwise genetic interactions for height

The paper analyzes 3.6 million individuals to find minimal evidence of non-additive genetic interactions for height.

MUSSEL: Enhanced Bayesian Polygenic Risk Prediction Leveraging Information across Multiple Ancestry Groups

MUSSEL improves polygenic risk prediction across populations by integrating GWAS summary statistics and using Bayesian hierarchical modeling with ensemble learning.

Multi-ancestry genome-wide meta-analysis in Parkinson's disease

This paper conducts a multi-ancestry genome-wide meta-analysis of Parkinson's disease, identifying 78 independent loci and 23 genes associated with PD risk.

A new method for multi-ancestry polygenic prediction improves performance across diverse populations

The paper introduces CT-SLEB, a method for multi-ancestry polygenic prediction that improves performance in non-European populations using GWAS summary statistics and simulation studies.

Genome-Wide Association Studies of Coffee Intake in UK/US Participants of European Ancestry Uncover Gene-Cohort Influences

This study compares GWAS results of coffee intake from 23andMe and UK Biobank, finding discrepancies in genetic correlations with health traits and highlighting cultural differences in gene-cohort influences.

Discovery of genomic loci associated with sleep apnoea risk through multi-trait GWAS analysis with snoring

This study identifies 49 genetic loci associated with sleep apnoea risk using multi-trait GWAS, with 29 replicated in a large cohort, and finds genetic correlations with several complex traits.

Genome-wide association study of musical beat synchronization demonstrates high polygenicity

This study conducts a genome-wide association study to identify genetic variants linked to musical beat synchronization, finding high polygenicity with 69 significant loci and heritability estimates of 13%-16%.

Genome-wide association study of pain sensitivity assessed by questionnaire and the cold pressor test

This study conducts GWAS on pain sensitivity measured by questionnaire and cold pressor test, identifying one significant locus and genetic correlations with pain conditions and risk factors.

Resource Profile and User Guide of the Polygenic Index Repository

The paper constructs polygenic indexes for 47 phenotypes across 11 datasets and provides a tool to correct errors-in-variables bias when using PGIs as proxies for the additive SNP factor.

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

Genetic analyses identify widespread sex-differential participation bias

The paper identifies sex-differential participation bias in genetic studies by performing GWAS on sex in 3.3 million individuals, finding 158 loci associated with sex and highlighting traits like BMI that may influence participation.

Genetic determinants of daytime napping and effects on cardiometabolic health

This study identifies genetic loci associated with daytime napping and finds potential causal links between napping and cardiometabolic traits.

Genome-wide study identifies association between HLA-B*55:01 and penicillin allergy

The paper identifies HLA-B*55:01 as a genetic risk factor for penicillin allergy through genome-wide analysis of electronic health records and imputed HLA data.

The Latent Genetic Structure of Impulsivity and its Relation to Internalizing Psychopathology

This study uses genomic structure equation modeling to show impulsivity traits have distinct genetic factors, with urgency most linked to internalizing psychopathology.

Genome-wide association and multi-omic analyses reveal new mechanisms for Heart Failure

This study identifies one known and two novel genetic variants associated with heart failure through GWAS and multi-omic analyses, revealing potential causal mechanisms and shared heritability with musculoskeletal traits.

Genetic risk for major depressive disorder and loneliness in gender-specific associations with coronary artery disease

This study identifies genetic risk factors for major depressive disorder and loneliness as predictors of coronary artery disease risk, particularly in women.

Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population

The paper characterizes the prevalence and health consequences of uniparental disomy in four million individuals, identifying 675 cases and linking UPD of chromosome 22 to autism.

Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness

This study identifies 12 genetic loci associated with loneliness and finds genetic correlations with 34 health outcomes, including cardiovascular and psychiatric disorders.

A genome-wide association study identifies that the GDF5 and COL27A1 genes are associated with knee pain in UK Biobank (N = 171, 516)

This study identifies two genetic loci, GDF5 and COL27A1, associated with knee pain through a genome-wide association analysis in the UK Biobank and replication in other cohorts.

Genome-wide association studies of impulsive personality traits (BIS-11 and UPPSP) and drug experimentation in up to 22,861 adult research participants

This study conducts GWAS on impulsive personality traits and drug experimentation in 22,861 adults, identifying genetic associations and correlations with psychiatric disorders.

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

GWAS in over one million individuals identify 611 loci across risk tolerance and risky behaviors, revealing shared genetic architecture and implicating glutamatergic and GABAergic neurotransmission.