Tuesday, July 29, 2014

Praise for PharmGKB

PharmGKB is “the Holy Grail” for DNA STAT, a company that provides pharmacogenomics testing for patients. DNA STAT goes on to praise PharmGKB’s “accessibility and comprehensiveness” and highlights its “interactive SNP features and tools for education and clinical implementation of genetic data.”

Friday, July 25, 2014

Ifosfamide PK and PD pathways published in PG&G

Ifosfamide is a produg used in combination chemotherapy for the treatment of solid tumors. Around 20% of patients experience toxicity. Pathways depicting the genes involved in the pharmacokinetics and pharmacodynamics of ifosfamide have been published in PG&G. Variants in these genes that are associated with toxicity and drug resistance are discussed.

Click on the pictures to view the pathways:

Read the publication:
PharmGKB summary: ifosfamide pathways, pharmacokinetics and pharmacodynamics.
Lowenberg D, Thorn CF, Desta Z, Flockhart DA, Altman RB, Klein TE.
Pharmacogenetics & Genomics. 2014 Feb;24(2):133-8.

Wednesday, July 16, 2014

New PharmGKB VIP Summary: CYP4F2

Cytochrome p450, family 2, subfamily F, polypeptide 2 (CYP4F2) is known to catalyze multiple biological reactions.  It is predominantly expressed in the liver and kidneys, although there is evidence that it is also expressed in the intestines. Of specific interest in pharmacogenetics, hepatic CYP4F2 regulates the bioavailability of vitamin K and vitamin E and is currently studied to determine how polymorphisms in CYP4F2 affect warfarin dosing in patients. A single variant in CYP4F2 (rs2108622) is significantly associated with small, but significant alterations in warfarin dosage in Asian and Caucasian populations.

For more information on this VIP gene and variant, please see the VIP tab for CYP4F2.

Monday, July 7, 2014

Introducing CFTR as a Very Important Pharmacogene (VIP)

Variants within the CFTR gene underlie Cystic Fibrosis (CF). Traditionally, drugs used in the treatment of this disease have focused on ameliorating symptoms, fighting infection, thinning mucus and dampening inflammation. Now, drug development is focusing on pharmaceuticals that correct the underlying CFTR defect. The PharmGKB CFTR VIP summary describes potential treatment strategies that target defects conferred by particular classes of CFTR variants.

Read VIP information about these CFTR variants: 
  • F508del-CFTR is prematurely degraded, failing to reach the plasma membrane. 
          Variants resulting in CFTR gating defects: