E020 – Psychiatric Genetics

Objectives and lines of research


Mental disorders are very common in the population and represent a significant personal and family burden. Our group is focused on the study of the genetic bases of common mental disorders. As complex traits, mental disorders arise from a combination of multiple genetic and environmental susceptibility factors. Among the genetic factors, there are many common variants with a very low individual effect but considerable addictive effect, as well as rare variants with a greater effect. The identification of genetic factors associated with mental disorders is leading to a better understanding of their biological basis. In addition, it allows us to create genomic susceptibility biomarkers (polygenic risk estimates) based on the joint effect of the different variants. This knowledge will improve the prognostic diagnosis and treatment of patients, as a consequence of stratifying them into more homogeneous subgroups, with a view to Precision Medicine in Psychiatry.

Lines of research

1. Identification of genetic factors predisposing to mental disorders, mainly schizophrenia and drug use disorders
2. Estimates of Individual Polygenic Risk Scores for Mental Disorders Due to Common Variants Across the Genome
3. Association of polygenic risk scores with clinical features
4. Identification of functionally related gene sets involved in susceptibility to mental disorders
5. Identification of rare genetic variants with high risk of mental disorders
6. Interaction/correlation between genetic and environmental factors in susceptibility to mental disorders
7. Shared genetic susceptibility between mental disorders and their involvement in comorbidity, mainly dual pathology (presence of drug addiction and another mental disorder)
8. Implications of shared genetic susceptibility among different mental disorders in the hierarchical structure of psychopathology

Research team

Costas Costas, Javier

Researchers (established or associate)
Arrojo Romero, Manuel
Páramo Fernández, Mario

Predoctoral staff
Al-Soufi Novo, Laila
Castro Prado, Fernando
Facal Molina, Fernando
Jácome Ferrer, Pablo

  • Andreu-Bernabeu et al. Polygenic contribution to the relationship of loneliness and social isolation with schizophrenia. Nature Communications, 2022 Jan 10;13(1):51. doi: 10.1038/s41467-021-27598-6.
  •  Al-Soufi L et al. A polygenic approach to the association between smoking and schizophrenia. Addiction Biology, http://doi.org/10.1111/adb.13104. PMID: 34779080
  • Facal F et al. Genetic predisposition to alcohol dependence: The combined role of polygenic risk to general psychopathology and to high alcohol consumption.  Drug Alcohol Depend. 2021 doi:10.1016/j.drugalcdep.2021.108556. PMID: 3356166
  •  Al-Soufi L, Costas J. Colocalization of association signals at nicotinic acetylcholine receptor genes between schizophrenia and smoking traits. Drug Alcohol Depend. 2021;220:108517. doi: 10.1016/j.drugalcdep.2021.108517. PMID: 33454625
  • González-Peñas J et al.  Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes. Transl Psychiatry. 2020;10(1):258. doi: 10.1038/s41398-020-00939-7. PMID: 32732888
  • Rodriguez-López J et al. Identification of relevant hub genes for early intervention at gene coexpression modules with altered predicted expression in schizophreniaProg Neuropsychopharmacol Biol Psychiatry. 2020;98:109815. doi: 10.1016/j.pnpbp.2019.109815. PMID: 31715283.
  • Facal F, Costas J. Evidence of association of the DISC1 interactome gene set with schizophrenia from GWAS. Prog Neuropsychopharmacol Biol Psychiatry. 2019;95:109729. doi: 10.1016/j.pnpbp.2019.109729. PMID: 31398428.
  • Gurriarán X et al. Relationships between substance abuse/dependence and psychiatric disorders based on polygenic scores. Genes Brain Behav. 2019;18(3):e12504. doi: 10.1111/gbb.12504. PMID: 29974660.
Group web