Pharmacogenetics and Genomics - Published Ahead-of-Print

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JMJD1C knockdown affects myeloid cell lines proliferation, viability, and gemcitabine/carboplatin-sensitivity

Objectives Chemotherapy-induced hematological toxicities are potentially life-threatening adverse drug reactions that vary between individuals. Recently, JMJD1C has been associated with gemcitabine/carboplatin-induced thrombocytopenia in non-small-cell lung cancer patients, making it a candidate marker for predicting the risk of toxicity. This...

Association between polymorphisms in the vitamin D receptor and susceptibility to multiple sclerosis

Multiple sclerosis (MS) is a neurodegenerative chronic inflammatory. Mutations in the vitamin D receptor (VDR) gene can substantially affect serum vitamin D levels or alter its functionality, and can consequently increase susceptibility to developing MS. The objective of this study was to evaluate the association between polymorphisms in the VDR gene...

HCP5 rs2395029 is a rapid and inexpensive alternative to HLA-B*57: 01 genotyping to predict abacavir hypersensitivity reaction in Spain

Abacavir (ABC) is an HIV nucleotide-analogue reverse transcriptase inhibitor that can produce a severe hypersensitivity reaction (ABC-HSR) in about 5% of the patients. The HLA-B*57:01 allele is associated with the development of ABC-HSR. Therefore, HLA-B*57:01 genotyping is required prior to the prescription of ABC. The technique routinely used in our...

Race and smoking status associated with paclitaxel drug response in patient-derived lymphoblastoid cell lines

The use of ex-vivo model systems to provide a level of forecasting for in-vivo characteristics remains an important need for cancer therapeutics. The use of lymphoblastoid cell lines (LCLs) is an attractive approach for pharmacogenomics and toxicogenomics, due to their scalability, efficiency, and cost-effectiveness. There is little data on the impact...

Identification of high-impact gene–drug pairs for pharmacogenetic testing in Alberta, Canada

To facilitate decision-making and priority-setting related to Alberta’s Pharmacogenomics (PGx) testing implementation strategy by identifying gene–drug pairs with the highest potential impact on prescribing practices in Alberta. Annual drug dispensing data for Alberta from 2012 to 2016 for 57 medications with PGx-based prescribing guidelines were obtained,...

Pharmacogenetic interactions of rifapentine plus isoniazid with efavirenz or nevirapine

Objective The effect of rifapentine plus isoniazid on efavirenz pharmacokinetics was characterized in AIDS Clinical Trials Group protocol A5279 (NCT01404312). The present analyses characterize pharmacogenetic interactions between these drugs, and with nevirapine. Methods A subset of HIV-positive individuals receiving efavirenz- or nevirapine-containing...

Single-nucleotide polymorphism biomarkers of adjuvant anastrozole-induced estrogen suppression in early breast cancer

Objective Based on our previous findings that postmenopausal women with estrone (E1) and estradiol (E2) concentrations at or above 1.3 pg/ml and 0.5 pg/ml, respectively, after 6 months of adjuvant anastrozole therapy had a three-fold risk of recurrence, we aimed to identify a single-nucleotide polymorphism (SNP)-based model that would predict elevated...

Role of enterocyte-specific gene polymorphisms in response to adjuvant treatment for stage III colorectal cancer

Objectives The enterocyte subtype of colorectal cancer (CRC) responds favorably to oxaliplatin-based adjuvant treatment for stage III CRC. We examined the clinical significance of single-nucleotide polymorphisms (SNPs) in enterocyte-related genes MS4A12 and CDX2 in response to adjuvant treatment for stage III CRC. Patients and methods A...

Methods and implementation of a pediatric asthma pharmacogenomic study in the emergency department setting

Objectives The emergency department (ED) is a challenging setting to conduct pharmacogenomic studies and integrate that data into fast-paced and potentially life-saving treatment decisions. Therefore, our objective is to present the methods and feasibility of a pilot pharmacogenomic study set in the ED that measured pediatric bronchodilator response...

Patient insights on features of an effective pharmacogenomics patient portal

Objective We built a novel mock pharmacogenomics web portal to deliver pharmacogenomic information and results to patients. Utilizing a patient focus group, we then sought to understand patient insights on desired features of an effective pharmacogenomics patient portal. Methods The mock YourPGx Portal delivered four sample pharmacogenomic...

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