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Katrin Sangkuhl

Constellation: tool for automated CYP2D6 phenotype assignment from WGS

A team from Children’s Mercy and the University of Missouri in Kanas City including Andrea Gaedigk and Greyson Twist published an article about a CYP2D6 phenotype assignment tool in Genomic Medicine (http://www.nature.com/articles/npjgenmed20157). Constellation, a probabilistic scoring system, enables automated ascertainment of CYP2D6 activity scores

New CPIC Guideline: CYP2D6 and CYP2C19 and Selective Serotonin Reuptake Inhibitors

Guidelines by the Clinical Pharmacogenetics Implementation Consortium (CPIC) regarding the use of pharmacogenetic tests for CYP2D6 and CYP2C19 in dosing selective serotonin reuptake inhibitors (SSRIs) have been accepted for publication in Clinical Pharmacology and Therapeutics. SSRIs are used as a first line treatment for major depressive and anxiety disorders, and

GWAS on SSRI treatment outcome in patients with depression: ISPC cohort and meta-analysis

The treatment response to selective serotonin reuptake inhibitors (SSRIs), a major class of antidepressant drugs, varies considerably between patients. The International SSRI PharmacogenomicsConsortium (ISPC) was established with the primary goal of identifying genetic variations that may contribute to SSRI treatment outcome in patients with depressive disorder. The ISPC includes eight

Pathways of acetaminophen metabolism at therapeutic versus toxic doses

We have updated the acetaminophen pharmacokinetic pathway, which depicts the metabolism at therapeutic doses. In addition we added a new pathway illustrating the metabolism of acetaminophen at toxic doses.Acetaminophen (paracetamol) is widely used for its analgesic and antipyretic properties. Acetaminophen is mostly converted by glucuronidation and sulfation. A minor

New PharmGKB pathway: Paroxetine

The paroxetine PK pathway is the newest addition to PharmGKB's pathway summaries. Paroxetine is a selective serotonin reuptake inhibitor (SSRI) used for the treatment of multiple psychiatric disorders including mood, panic, anxiety, and obsessive compulsive disorders. The pathway diagram depicts candidate genes mediating the transformation of paroxetine into

CPIC guidelines for CYP2D6 genotypes and codeine therapy: 2014 Update

The Clinical Pharmacogenetics Implementation Consortium (CPIC) has published updates to the guidelines for the use of genetic test results for cytochrome P450-2D6 (CYP2D6) in codeine dosing. The 2014 update is now available online, as an accepted article preview.Alternate analgesics are recommended for CYP2D6 ultrarapid and poor metabolizers. Label recommended

PG&G publication: Mycophenolic acid Pathway

Mycophenolic acid (MPA) is an immunosuppressive agent used to prevent rejection in organ transplantation. We recently have published this pathway summary in the Pharmacogenetics and Genomics Journal.The article and included figure describe the metabolism of MPA and its prodrug mycophenolate mofetil. MPA is a noncompetitive, selective and reversible inhibitor

Venlafaxine Pathway published in PG&G

Venlafaxine is a serotonin-norepinephrine reuptake inhibitor (SNRI) marketed for the treatment of depression disorders. We recently have published the Venlafaxine Pathway summary in the Pharmacogenetics and Genomics Journal.The article describes the metabolism of venlafaxine, with cytochrome P450 2D6 (CYP2D6) being the major enzyme involved in the formation of its

CPIC guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 Update

The 2013 update of the CPICguidelines for CYP2C19 and clopidogrel dosing is now available online, as an accepted article preview. This updated guideline refines the recommendations for specific CYP2C19alleles, with emphasis on the appropriate indication for CYP2C19genotype-directed antiplatelet therapy, and, an expanded literature review to include recent published evidence. Read

Venlafaxine Pathway

Venlafaxine is a serotonin-norepinephrine reuptake inhibitor (SNRI) marketed for the treatment of depression disorders. The molecular targets of venlafaxine are the serotonin and norepinephrine transporters, resulting in inhibition of serotonin and noradrenaline reuptake from the synaptic cleft. A new pathway is posted on PharmGKB summarizing the metabolism of venlafaxine. Demethylation