Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients
In this study, we evaluated outcomes in 400 African American and European American pediatric cases all of whom were regular users of inhaled corticosteroids. Patients were stratified by genotype using two single nucleotide polymorphisms in the β-2-adrenergic receptor (ADRB2) gene – rs1042713 and rs1042714, previously associated with asthma outcome. These correspond to nonsynonymous single nucleotide polymorphisms at positions 16 [arginine to glycine (Arg16Gly); rs1042713] and 27 [glutamic acid to glutamine (Glu27Gln); rs1042714], which are relatively common (minor allele frequencies ∼40–50%), and have been well char...
Source: Pharmacogenetics and Genomics - October 18, 2018 Category: Genetics & Stem Cells Tags: SHORT COMMUNICATIONS Source Type: research
Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide
Chromosome 12q15 was identified in Genetic Epidemiology of Response Assessment (GERA) and replicated in Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) for its association with blood pressure (BP) response to hydrochlorothiazide (HCTZ). However, the functional variant is unknown and we aimed to identify the likely functional variants through targeted sequencing. The chromosome 12q15 region was sequenced in 397 best and worst responders to HCTZ in PEAR (N=199) and GERA (N=198) hypertensive study participants. Logistic regression was used for the association analysis adjusting for age, sex, race, and principa...
Source: Pharmacogenetics and Genomics - October 18, 2018 Category: Genetics & Stem Cells Tags: SHORT COMMUNICATIONS Source Type: research
Pharmacogenetic variants and response to neoadjuvant single-agent doxorubicin or docetaxel: a study in locally advanced breast cancer patients participating in the NCT00123929 phase 2 randomized trial
Conclusion
We identified two polymorphisms in CYP1B1 and ABCC2 associated with tumor pathological response following docetaxel or doxorubicin neoadjuvant monotherapy, respectively. Although further validation is required, these variants could be potential predictive genetic markers for treatment outcome in breast cancer patients. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - October 18, 2018 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLE Source Type: research
Functional expression of human arylamine N-acetyltransferase NAT1*10 and NAT1*11 alleles: a mini review
The arylamine N-acetyltransferase (NAT) nomenclature committee assigns functional phenotypes for human arylamine N-acetyltransferase 1 (NAT1) alleles in those instances in which the committee determined a consensus has been achieved in the scientific literature. In the most recent nomenclature update, the committee announced that functional phenotypes for NAT1*10 and NAT1*11 alleles were not provided owing to a lack of consensus. Phenotypic inconsistencies observed among various studies for NAT1*10 and NAT1*11 may be owing to variable allelic expression among different tissues, the limitations of the genotyping assays (whi...
Source: Pharmacogenetics and Genomics - October 1, 2018 Category: Genetics & Stem Cells Tags: Mini Review Source Type: research
PharmGKB summary: oxycodone pathway, pharmacokinetics
No abstract available (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - October 1, 2018 Category: Genetics & Stem Cells Tags: PharmGKB Summary Source Type: research
The role of genetic polymorphisms in the thymidylate synthase (TYMS) gene in methotrexate-induced oral mucositis in children with acute lymphoblastic leukemia
Conclusion
The TYMS 6-bp deletion and 2R3R polymorphism were not associated with MTX-induced oral mucositis. Validation studies in prospective cohorts are necessary to assess the possible role of the low-expression TYMS genotypes in relation to MTX-induced oral mucositis. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - October 1, 2018 Category: Genetics & Stem Cells Tags: Original Article Source Type: research
PharmGKB summary: clozapine pathway, pharmacokinetics
No abstract available (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - September 1, 2018 Category: Genetics & Stem Cells Tags: PharmGKB Summary Source Type: research
Pharmacogenetic and clinical predictors of response to clopidogrel plus aspirin after acute coronary syndrome in Egyptians
Conclusion
These results highlight that CYP2C19*2, along with diabetes, and use of proton pump inhibitor and statin are important factors jointly associated with variability in clinical response to DAPT following ACS in Egyptians. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - September 1, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Role of CYP1A1, ABCG2, CYP24A1 and VDR gene polymorphisms on the evaluation of cardiac iron overload in thalassaemia patients
Conclusion
Our results suggested, for the first time, the role of DFX and vitamin D pharmacogenetics on cardiac iron overload. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - September 1, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
PharmGKB summary: voriconazole pathway, pharmacokinetics Erratum
No abstract available (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - August 1, 2018 Category: Genetics & Stem Cells Tags: Erratum Source Type: research
Genetic determinants of impaired awareness of hypoglycemia in type 1 diabetes
No abstract available (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - August 1, 2018 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research
Genetic polymorphisms in candidate genes are not associated with increased vincristine-related peripheral neuropathy in Arab children treated for acute childhood leukemia: a single institution study
Conclusion
This study presents the first pharmacogenetic analysis of vincristine-related peripheral neuropathy in children with ALL in an Arab country. We have shown that genetic polymorphisms in candidate genes are not associated with peripheral neuropathy secondary to chronic therapy with high-dose vincristine (2 mg/m2) during the continuation phase. Concerning CEP72, our results are in line with the findings from the St Jude cohort of children treated for ALL with higher vincristine doses during chronic treatment. Larger high-throughput genetic analyses may be warranted to evaluate variants in other candidate genes ...
Source: Pharmacogenetics and Genomics - August 1, 2018 Category: Genetics & Stem Cells Tags: Original Article Source Type: research
The hemodynamic response to constant dobutamine infusion: the effect of ADRB1 389 polymorphism and sex Erratum
No abstract available (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - June 13, 2018 Category: Genetics & Stem Cells Tags: Erratum Source Type: research
Brain neurotransmitter transporter/receptor genomics and efavirenz central nervous system adverse events
Conclusion
Efavirenz-related CNS adverse events were not associated with predicted neurotransmitter transporter/receptor gene expression levels in brain or with polymorphisms in these genes. Variable susceptibility to efavirenz-related CNS adverse events may not be explained by brain neurotransmitter transporter/receptor genomics. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - June 13, 2018 Category: Genetics & Stem Cells Tags: Original Article Source Type: research
In memoriam: Wendell W. Weber, PhD, MD (1925–2018)
No abstract available (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - June 13, 2018 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research
