Effect of UGT2B10, UGT2B17, FMO3, and OCT2 genetic variation on nicotine and cotinine pharmacokinetics and smoking in African Americans
Conclusion: We found that polymorphisms in genes other than CYP2A6 represent minor sources of variation in nicotine pharmacokinetics, insufficient to alter smoking in AAs. The change in COT pharmacokinetics with UGT2B10 rs116294140 highlights the UGT2B10 gene as a source of variability in COT as a biomarker of tobacco exposure among AA smokers. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - March 17, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Influence of common polymorphisms in the SLC5A2 gene on metabolic traits in subjects at increased risk of diabetes and on response to empagliflozin treatment in patients with diabetes
Conclusion: Common genetic variants in the SLC5A2 gene neither affects diabetes-related metabolic traits nor have a clinically relevant impact on response to treatment with the SGLT2 inhibitor empagliflozin. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - March 17, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Effects of functional CYP2C8,CYP2C9,CYP3A5,and ABCB1 genetic variants on the pharmacokinetics of insulin sensitizer pioglitazone in Chinese Han individuals
Conclusion: The present research suggests that the CYP2C8, CYP3A5, and ABCB1 genes play no significant role in the interindividual variation of pioglitazone pharmacokinetics, whereas CYP2C9*3 carriers are likely to accelerate the metabolism of this antidiabetic drug in the Chinese Han ethnic population. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - March 17, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Influence of the KDM4A rs586339 polymorphism on overall survival in Asian non-small-cell lung cancer patients
The critical role of lysine demethylase 4A (KDM4A), in regulating chromatin structure and consequently in driving cellular proliferation and oncogenesis has been the focus of recent studies. Non-small-cell lung cancer (NSCLC) patients with adenocarcinoma histology who were homozygous for KDM4A single nucleotide polymorphism (SNP)-A482 (rs586339) were recently shown to have significantly worse overall survival (OS) compared with patients with the wild-type or the heterozygous genotype at this locus (hazard ratio=1.68, P=0.042). In the current study, we investigated the association between the same polymorphism with OS in ou...
Source: Pharmacogenetics and Genomics - February 2, 2017 Category: Genetics & Stem Cells Tags: Short Communication Source Type: research
Meta-analysis of genome-wide association studies on the intolerance of angiotensin-converting enzyme inhibitors
Objectives: To identify single nucleotide polymorphisms (SNPs) associated with switching from an angiotensin-converting enzyme (ACE)-inhibitor to an angiotensin receptor blocker.
Methods: Two cohorts of patients starting ACE-inhibitors were identified within the Rotterdam Study in the Netherlands and the Genetics of Diabetes Audit and Research in Tayside Scotland study in Scotland. Cases were intolerant patients who switched from an ACE-inhibitor to an angiotensin receptor blocker and controls were individuals who used ACE-inhibitors continuously for at least 2 years and did not switch. Genome-wide association study (GWAS...
Source: Pharmacogenetics and Genomics - February 2, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Multiphenotype association study of patients randomized to initiate antiretroviral regimens in AIDS Clinical Trials Group protocol A5202
Conclusion: Using data from a prospective HIV clinical trial, we identified expected genetic associations, potentially novel associations, and at least one context-dependent association. This study supports high-throughput strategies that simultaneously explore multiple phenotypes from clinical trials’ datasets for genetic associations. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - February 2, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Characterization of ADME gene variation in 21 populations by exome sequencing
Conclusion: Exome sequencing was effective in accurately genotyping most ADME variants important for pharmacogenetic research, in addition to identifying rare or potentially de novo coding variants that may be clinically meaningful. Furthermore, as a class, ADME genes are more variable and less sensitive to purifying selection than non-ADME genes. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - February 2, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Common single nucleotide polymorphisms in transient receptor potential melastatin type 6 increase the risk for proton pump inhibitor-induced hypomagnesemia: a case–control study
Conclusion: We found hypomagnesemia in 13% of PPI users. SNPs in TRPM6 drive the risk of developing hypomagnesemia during chronic PPI use. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - February 2, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Hla-b*57
No abstract available (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 7, 2017 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research
Nomenclature for alleles of the human carboxylesterase 1 gene
No abstract available (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 7, 2017 Category: Genetics & Stem Cells Tags: Opinion Source Type: research
Rituximab response in follicular lymphoma is associated with the rs20575 polymorphism in TRAILR1 extrinsic apoptosis trigger
Conclusion: After studying the pharmacogenetic role of TRAILR1/TRAIL polymorphisms in rituximab-treated FL patients, we found that the rs20575 CC genotype is an independent predictive factor of better rituximab response, indicating the possible involvement of death receptors in anti-CD20 mechanisms of action. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
A comprehensive contribution of genes for aryl hydrocarbon receptor signaling pathway to hypertension susceptibility
Objective: The present study was designed to investigate whether genetic polymorphisms of the aryl hydrocarbon receptor (AHR) signaling pathway are involved in the molecular basis of essential hypertension (EH).
Methods: A total of 2160 unrelated Russian individuals comprising 1341 EH patients and 819 healthy controls were recruited into the study. Seven common AHR pathway single-nucleotide polymorphisms (SNPs) such as rs2066853, rs2292596, rs2228099, rs1048943, rs762551, rs1056836, and rs1800566 were genotyped by TaqMan-based allele discrimination assays.
Results: We found that SNP rs2228099 of ARNT is associated with a...
Source: Pharmacogenetics and Genomics - January 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis
Conclusion: These findings highlight the role that the ATP-binding cassette subfamily C member 6 haplotype may play in AZA drug response. In view of the significant effects and AZA intolerance, these novel SNPs should be taken into consideration in pharmacogenetic profiling for AZA. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
The plausible association of MTHFR and ADORA2A polymorphisms with nodules in rheumatoid arthritis patients treated with methotrexate
Conclusion: This exploratory study indicates for the first time a plausible association of adenosine and folate pathways single nucleotide polymorphisms in nodules’ etiopathogenesis. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
PharmGKB summary: ivacaftor pathway, pharmacokinetics/pharmacodynamics
No abstract available (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - December 8, 2016 Category: Genetics & Stem Cells Tags: PharmGKB Summary Source Type: research
