HLA-DRB1*16: 01-DQB1*05: 02 is a novel genetic risk factor for flupirtine-induced liver injury
Conclusion: We identified a novel HLA class II association for DILI, confirming the important contribution of HLA genotype towards the risk of DILI generally. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - April 8, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Association of genetic risk scores with body mass index in Swiss psychiatric cohorts
Conclusion: The present study replicated in psychiatric cohorts previously identified BMI risk variants obtained in GWAS analyses from population-based samples. Sex-specific analysis should be considered in further analysis. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - April 8, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus
Objective: CES1 encodes carboxylesterase-1, an important drug-metabolizing enzyme with high expression in the liver. Previous studies have reported a genomic translocation of the 5′ region from the poorly expressed pseudogene CES1P1, to CES1, yielding the structural variant CES1VAR. The aim of this study was to characterize this translocation and its effect on CES1 expression in the human liver.
Materials and methods: Experiments were conducted in human liver tissues and cell culture (HepG2). The promoter and exon 1 of CES1 were sequenced by Sanger and Ion Torrent sequencing to identify gene translocations. The effects ...
Source: Pharmacogenetics and Genomics - April 8, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Ethanol-metabolizing activities and isozyme protein contents of alcohol and aldehyde dehydrogenases in human liver: phenotypic traits of the ADH1B*2 and ALDH2*2 variant gene alleles
Conclusion: Functional correlations of ADH1B*2 and ALDH2*2 variant alleles in the liver provide a biochemical genetic basis suggesting their contribution toward variability in ethanol metabolism as well as susceptibility to alcoholism and alcohol-related diseases in East Asians. (Source: Pharmacogenetics and Genomics)
Source: Pharmacogenetics and Genomics - March 13, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Association of KCNQ1 polymorphisms with gliclazide efficacy in Chinese type 2 diabetic patients
Objectives: To investigate the effects of KCNQ1 polymorphisms on the efficacy of gliclazide in type 2 diabetic patients.
Materials and methods: A total of 443 newly diagnosed type 2 diabetic patients were included in this study. After enrollment, patients went on an 8-week gliclazide monotherapy. Fasting plasma glucose (FPG) was measured before and after the treatment. Life-style information was collected by weekly follow-up. Genotyping of the two single-nucleotide polymorphisms was performed using the single base primer extension method. T-test, one-way analysis of variance, and Pearson χ2-test were used to evaluate the...
Source: Pharmacogenetics and Genomics - March 13, 2016 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
