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Héléna A. Gaspar

University of North Carolina at Chapel Hill

ORCID: 0000-0002-5540-2707

Publishes on Genetic Associations and Epidemiology, Computational Drug Discovery Methods, Bioinformatics and Genomic Networks. 98 papers and 15.5k citations.

98Publications
15.5kTotal Citations

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Top publicationsby citations

Genome-wide association study identifies 30 loci associated with bipolar disorder
Eli A. Stahl, Gerome Breen, Andreas J. Forstner et al.|Nature Genetics|2019
Cited by 1.6kOpen Access

) in the discovery GWAS were not genome-wide significant in the combined analysis, consistent with small effect sizes and limited power but also with genetic heterogeneity. In the combined analysis, 30 loci were genome-wide significant, including 20 newly identified loci. The significant loci contain genes encoding ion channels, neurotransmitter transporters and synaptic components. Pathway analysis revealed nine significantly enriched gene sets, including regulation of insulin secretion and endocannabinoid signaling. Bipolar I disorder is strongly genetically correlated with schizophrenia, driven by psychosis, whereas bipolar II disorder is more strongly correlated with major depressive disorder. These findings address key clinical questions and provide potential biological mechanisms for bipolar disorder.

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
Cited by 1.2kOpen Access

and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.