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A major genotype in UDP-glucuronosyltransferase 2B15
Kenji Toide1, Shin-Ichiro Umeda, Hiroshi Yamazaki
1Laboratory of Drug Metabolism, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan.
Drug Metabolism and Pharmacokinetics
|December 25, 2004
Summary
A novel single nucleotide polymorphism (SNP) in the UDP-glucuronosyltransferase (UGT) 2B15 gene was identified in Japanese individuals. This common UGT2B15 genetic variation may alter protein function, impacting drug metabolism.
Area of Science:
- Pharmacogenomics
- Human Genetics
- Molecular Biology
Background:
- The UDP-glucuronosyltransferase (UGT) 2B15 gene plays a role in drug metabolism.
- Genetic variations within drug-metabolizing enzymes can influence individual responses to medications.
Purpose of the Study:
- To identify and characterize novel genetic variations in the UGT2B15 gene.
- To determine the frequency of identified polymorphisms in a healthy Japanese population.
Main Methods:
- DNA sequencing was performed on samples from healthy Japanese individuals.
- A novel single nucleotide polymorphism (SNP) was identified in exon 6 of the UGT2B15 gene.
- The SNP's potential impact on amino acid sequence and its allele frequency were analyzed.
Main Results:
- A novel SNP (020228Toide001) was discovered in exon 6 of the UGT2B15 gene.
- This SNP is predicted to result in an amino acid substitution (Threonine to Lysine) at position 523.
- The allele frequency of this UGT2B15 SNP was found to be 79% in the studied Japanese population.
Conclusions:
- A common UGT2B15 polymorphism exists in the Japanese population.
- This major genotype may influence UGT2B15 enzyme activity and its role in drug metabolism.
- Further research is warranted to investigate the functional consequences of this SNP.