2020 issue 1


Volume 36, issue 1

Review article

Lithium pharmacogenetics. Two decades of studies

Maciej D. Sobczak1, Joanna M. Pawlak2
1. Department of Adult Psychiatry, Poznan Teaching Hospital No 5, Poznan University of Medical Sciences, Poland
2. Department of Psychiatric Genetics, Department of Psychiatry, Poznan University of Medical Sciences, Poland
Farmakoterapia w Psychiatrii i Neurologii 2020, 36 (1), 67–82
Date of publication: 25-06-2020
DOI: https://doi.org/10.33450/fpn.2020.05.002
Keywords: Pharmacogenetics, Lithium, genome-wide association study, candidate genes, copy number variants, polygenic risk score


Pharmacogenetic research aims to elucidate associations of genetic variants and individual effects of pharmacotherapy. Personalised expected response to medications might be useful in prognosis for polygenetically determined disorders. In bipolar disorder (BP), that is partly hereditary polygenic disorder, a subgroup of patients excellently responding to lithium prophylaxis was described. During the last 20 years molecular technology allowed to investigate genome of patients treated with lithium and candidate association studies characterised them more precisely than clinical features. The role of several neurotransmitters’ pathways, second messengers, neuroprotection involved genes and clock genes associations were discovered. Further laboratory technics development enables us to perform genome-wide association studies (GWAS) and polygenic risk score (PRS) analyses. We aimed to review research on genes involved in lithium treatment efficacy and safety. PubMed for English papers, articles published in Polish and reference lists from full-text available papers were searched. Pharmacogenetic findings for lithium treatment effects might help develop new personalised strategies and consequently better symptom reduction. So far, chronicity and recurrent course of bipolar disorder impair the functioning of numerous patients and strongly increase the risk of suicide.

Address for correspondence:
Maciej D. Sobczak
Klinika Psychiatrii Dorosłych
Uniwersytet Medyczny w Poznaniu
ul. Szpitalna 27/33, 60-572, Poznań, Poland
email: mdsobczak@gmail.com