Whole-genome methylation profiling of peripheral blood mononuclear cell for acute exacerbations of chronic obstructive pulmonary disease treated with corticosteroid
Conclusion
Our preliminary findings provide evidence for molecular heterogeneity in patients with AECOPD, which may contribute to significant differences in their response to COPD treatment. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - February 6, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Differential effect of ABCB1 haplotypes on promoter activity
Objective
Promoter single-nucleotide polymorphisms (SNPs) of the ABCB1 gene, encoding the placental efflux transporter P-glycoprotein, can affect its expression and alter xenobiotic transfer from the maternal to the fetal circulation. Because SNPs are arranged in specific combinations as defined haplotypes, the aims of this study were to: (i) determine the placental haplotype structure of the ABCB1 promoter and (ii) determine the differential effect of these haplotypes on placental ABCB1 promoter activity.
Materials and methods
DNA samples from 100 healthy placentas were PCR-amplified and sequenced to identify existin...
Source: Pharmacogenetics and Genomics - February 6, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Cost-effectiveness analysis of HLA-B*58: 01 genetic testing before initiation of allopurinol therapy to prevent allopurinol-induced Stevens–Johnson syndrome/toxic epidermal necrolysis in a Malaysian population
Conclusion
This analysis showed that HLA-B*58:01 genetic testing before allopurinol initiation is unlikely to be a cost-effective intervention in Malaysia. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 17, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Genome-wide meta-analyses identifies novel taxane-induced peripheral neuropathy-associated loci
Objective
Taxane containing chemotherapy extends survival for breast cancer patients. However, taxane-induced peripheral neuropathy (TIPN) cannot be predicted, prevented or effectively treated. Using genome-wide analyses, we sought to identify common risk variants for TIPN.
Patients and methods
Women with high-risk breast cancer enrolled in SWOG 0221 were genotyped using the Illumina 1M chip. Genome-wide analyses were performed in relation to ≥grade 3 Common Terminology Criteria for Adverse Events (CTCAE) neuropathy in European and African Americans. Data were meta-analyzed with GW associations of CTCAE ≥grade 3 v...
Source: Pharmacogenetics and Genomics - January 17, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Influence of donor liver CYP3A4*20 loss-of-function genotype on tacrolimus pharmacokinetics in transplanted patients
Conclusion
This first description of CYP3A4*20 null genotype in liver-transplanted patients, supports the relevance of CYP3A genotyping in tacrolimus therapy. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 17, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Angiotensin-converting enzyme activity in Cavalier King Charles Spaniels with an ACE gene polymorphism and myxomatous mitral valve disease
Conclusion
The CKCS appears to have a high prevalence of the ACE variant. Dogs with the ACE variant had lower levels of ACE activity even in more advanced mitral valve disease than dogs without the variant. The clinical significance of this finding and its impact on the need for ACE-I in dogs with the polymorphism and heart disease deserves further study. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 17, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Cost-effectiveness analysis of HLA-B*58: 01 genetic testing before initiation of allopurinol therapy to prevent allopurinol-induced Stevens–Johnson syndrome/toxic epidermal necrolysis in a Malaysian population
Conclusion
This analysis showed that HLA-B*58:01 genetic testing before allopurinol initiation is unlikely to be a cost-effective intervention in Malaysia. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 4, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Genome-wide meta-analyses identifies novel taxane-induced peripheral neuropathy-associated loci
Objective
Taxane containing chemotherapy extends survival for breast cancer patients. However, taxane-induced peripheral neuropathy (TIPN) cannot be predicted, prevented or effectively treated. Using genome-wide analyses, we sought to identify common risk variants for TIPN.
Patients and methods
Women with high-risk breast cancer enrolled in SWOG 0221 were genotyped using the Illumina 1M chip. Genome-wide analyses were performed in relation to ≥grade 3 Common Terminology Criteria for Adverse Events (CTCAE) neuropathy in European and African Americans. Data were meta-analyzed with GW associations of CTCAE ≥grade 3 v...
Source: Pharmacogenetics and Genomics - January 4, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Influence of donor liver CYP3A4*20 loss-of-function genotype on tacrolimus pharmacokinetics in transplanted patients
Conclusion
This first description of CYP3A4*20 null genotype in liver-transplanted patients, supports the relevance of CYP3A genotyping in tacrolimus therapy. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 4, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Angiotensin-converting enzyme activity in Cavalier King Charles Spaniels with an ACE gene polymorphism and myxomatous mitral valve disease
Conclusion
The CKCS appears to have a high prevalence of the ACE variant. Dogs with the ACE variant had lower levels of ACE activity even in more advanced mitral valve disease than dogs without the variant. The clinical significance of this finding and its impact on the need for ACE-I in dogs with the polymorphism and heart disease deserves further study. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - January 4, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Gene–gene interaction between DRD4 and COMT modulates clinical response to clozapine in treatment-resistant schizophrenia
Clozapine is the drug of choice for treatment-resistant schizophrenia. However, its use is associated with variable clinical responses and serious adverse effects. Polymorphisms in genes encoding proteins involved in synaptic neurotransmission may account for such variability. Here, we studied independent and epistatic genetic associations of polymorphisms in DRD4 (120-bp duplication) and COMT (Val158Met) with clinical response to clozapine in people with treatment-resistant schizophrenia. We studied 93 participants who were on stable doses of clozapine for at least 12 weeks. A total score of less than or equal to 35 on th...
Source: Pharmacogenetics and Genomics - December 14, 2017 Category: Genetics & Stem Cells Tags: Short Communication Source Type: research
A randomized phase II study of S-1 versus capecitabine as first-line chemotherapy in elderly metastatic gastric cancer patients with or without poor performance status: clinical and pharmacogenetic results
Conclusion
Both S-1 and capecitabine were active and tolerable for elderly MGC patients. The CYP2A6 genotyping might guide treatment selection. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - December 14, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Effect of pharmacogenetic markers of vitamin D pathway on deferasirox pharmacokinetics in children
Conclusion
Our preliminary experience suggested the potential usefulness of vitamin D pharmacogenetic to better understand deferasirox interindividual variability, also in pediatric patients. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - December 14, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism
Conclusion
The novel five-SNP diplotype may be useful to incorporate into CYP2A6 genotype models for personalized prediction of nicotine metabolism rate, cessation success, and response to pharmacotherapies. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - December 14, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Race/ethnicity difference in the pharmacogenetics of bilirubin-related atazanavir discontinuation
Conclusion
Among patients who initiated atazanavir/ritonavir-containing regimens, UGT1A1 slow metabolizer genotype rs887829 T/T was associated with increased bilirubin-related discontinuation of atazanavir in White but not in Black patients, this despite T/T genotype being more frequent in Black patients. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - December 14, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
