Background: Genetic variation influences drug reaction or adverse prognosis. The purpose of this research was to genotype very important pharmacogenetic (VIP) variants in the Tibetan population.
Methods And Materials: Blood samples from 200 Tibetans were randomly collected and 59 VIP variants were genotyped, and then compared our data to 26 other populations in the 1000 project to further analyze and identify significant difference.
Results: The results showed that on comparing with most of the 26 populations from the 1000 project, rs4291 (), rs1051296 () and rs1065852 () significantly differed in the Tibetan population. Furthermore, three significant loci were related to drug response. In addition, the allele frequency of Tibetans least differed from that of East Asian populations, and most differed from that of Americans.
Conclusion: Three significant loci of variation rs4291, rs1051296 and rs1065852 were associated with drug response. This result will contribute to improving the information of the Tibetan in the pharmacogenomics database, and providing a theoretical basis for clinical individualised drug use in Tibetans.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8379641 | PMC |
| http://dx.doi.org/10.2147/PGPM.S316711 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by mutation: a case report and literature review.
Front Pediatr
November 2024
Department of Neonatology, Lanzhou University Second Hospital, Lanzhou, China.
Background: To investigate the clinical phenotype, genetic characteristics, and prognosis of isolated adrenocorticotropic hormone deficiency in a newborn (IAD, OMIM 201400) caused by mutation of the gene.
Case Presentation: The clinical features, diagnosis, treatment, and prognosis of a newborn with IAD admitted to our hospital were retrospectively analyzed. The patient and his parents were also examined by whole exome sequencing.
Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid Tumors.
Glob Med Genet
December 2024
Department of Respiratory Medicine, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, People's Republic of China.
Article Synopsis
- FGFR is a vital receptor involved in growth and tissue repair, but its gene mutations can lead to cancer by disrupting essential processes.
- Small molecule drugs and antibodies targeting FGFR mutations, like erdafitinib and pemigatinib, have shown clinical efficacy in treating certain cancer types.
- Effective screening methods for FGFR variants are essential for utilizing FGFR inhibitors in treatment, and a consensus has been developed to standardize diagnosis and treatment processes.
Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.
BMC Pediatr
November 2024
Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China.
Background And Objectives: Methionine adenosyltransferase I/III deficiency used to be considered a relatively benign disease. This study aims to elucidate the clinical characteristics of methionine adenosyltransferase I/III deficiency patients with neurological manifestations.
Methods: The clinical data, blood amino acids, plasma total homocysteine, gene variants, brain imaging, treatments and outcomes of 15 patients with methionine adenosyltransferase I/III deficiency were retrospectively analyzed.
Two novel deep intronic variants cause Duchenne muscular dystrophy by splice-altering mechanism.
Neuromuscul Disord
December 2024
Department of Neurology, Children's Hospital of Fudan University, Shanghai, PR China. Electronic address:
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness, due to mutations in the DMD gene, which encodes the dystrophin protein. While mutations within the coding regions of DMD have been extensively studied, recent focus has shifted to deep intronic variants for their potential impact on disease severity. Here, we characterize two deep intronic variants, c.
View Article and Find Full Text PDFHeterozygous expression of a gain-of-function variant has differential effects on somatostatin- and parvalbumin-expressing cortical GABAergic neurons.
Elife
October 2024
Fralin Biomedical Research Institute at Virginia Tech Carilion, Center for Neurobiology Research, Roanoke, United States.
Article Synopsis
- * In mouse studies, a specific GOF variant was examined, revealing that while it did not affect glutamatergic or VIP neurons, it caused SST neurons to become less excitable and PV neurons to become more excitable, both affecting their electrical activity.
- * The functional differences in SST and PV neurons were attributed to an increased persistent sodium current in PV neurons, showing that the pathogenic mechanisms can lead to opposite effects in similar neuron types and highlighting the complexity of treatment approaches for these disorders.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!