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Pharmacogenomics of Lithium Response in Bipolar Disorder.
Pharmaceuticals (Basel)
March 2021
Experimental Therapeutics and Molecular Pathophysiology Program, Louis A. Faillace, MD, Department of Psychiatry and Behavioral Sciences, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77054, USA.
Despite being the most widely studied mood stabilizer, researchers have not confirmed a mechanism for lithium's therapeutic efficacy in Bipolar Disorder (BD). Pharmacogenomic applications may be clinically useful in the future for identifying lithium-responsive patients and facilitating personalized treatment. Six genome-wide association studies (GWAS) reviewed here present evidence of genetic variations related to lithium responsivity and side effect expression.
View Article and Find Full Text PDFWhole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism.
Asian J Androl
December 2021
Department of Andrology, Center for Men's Health, Urologic Medical Center, Shanghai General Hospital, Shanghai Jiao Tong University, Shanghai 200080, China.
Dozens of genes are associated with idiopathic hypogonadotropic hypogonadism (IHH) and an oligogenic etiology has been suggested. However, the associated genes may account for only approximately 50% cases. In addition, a genomic systematic pedigree analysis is still lacking.
View Article and Find Full Text PDFRadiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis.
Ann Rheum Dis
July 2017
Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Objective: Osteoarthritis (OA) has a strong genetic component but the success of previous genome-wide association studies (GWAS) has been restricted due to insufficient sample sizes and phenotype heterogeneity. Our aim was to examine the effect of clinically relevant endophenotyping according to site of maximal joint space narrowing (maxJSN) and bone remodelling response on GWAS signal detection in hip OA.
Methods: A stratified GWAS meta-analysis was conducted in 2118 radiographically defined hip OA cases and 6500 population-based controls.
variant and medication adherence in predicting response to lithium maintenance treatment in bipolar I disorder.
BJPsych Open
September 2016
, MD, PhD, DSc (London), FRCPsych, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Background: Genetic variants and medication adherence have been identified to be the main factors contributing to lithium treatment response in bipolar disorders.
Aims: To simultaneously examine effects of variant glutamate decarboxylase-like protein 1 () and medication adherence on response to lithium maintenance treatment in Han Chinese patients with bipolar I (BPI) disorder.
Method: Frequencies of manic and depressive episodes between carriers and non-carriers of the effective rs17026688 T allele during the cumulative periods of off-lithium, poor adherence to lithium treatment and good adherence to lithium treatment were compared in Han Chinese patients with BPI disorder (=215).
Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression.
Neurochem Int
November 2015
K.G. Jebsen Centre for Research on Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Norway; Division of Psychiatry, Haukeland University Hospital, Bergen, Norway. Electronic address:
Variants in the gene encoding the enzyme glutamic acid decarboxylase like 1 (GADL1) have been associated with response to lithium therapy. Both GADL1 and the related enzyme cysteine sulfinic acid decarboxylase (CSAD) have been proposed to be involved in the pyridoxal-5'-phosphate (PLP)-dependent biosynthesis of taurine. In the present study, we compared the catalytic properties, inhibitor sensitivity and expression profiles of GADL1 and CSAD in brain tissue.
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