Open AccessJapanese single nucleotide polymorphism database for 267 possible drug‐related genes
Author(s) -
Iida Aritoshi,
Saito Susumu,
Sekine Akihiro,
Takahashi Atsushi,
Kamatani Naoyuki,
Nakamura Yusuke
Publication year - 2006
Publication title -
cancer science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.035
H-Index - 141
eISSN - 1349-7006
pISSN - 1347-9032
DOI - 10.1111/j.1349-7006.2006.00142.x
Subject(s) - single nucleotide polymorphism , snp , gene , genetics , biology , dbsnp , personalized medicine , nonsense mutation , computational biology , coding region , drug , mutation , genotype , missense mutation , pharmacology
To establish ‘personalized medicines’ that can provide the right drug at the appropriate dose for each individual patient on the basis of genetic background, we have been building the infrastructure for a Japanese single nucleotide polymorphism (SNP) database of the genes encoding various enzymes, transporters and receptors that are involved in the metabolism, transportation and action of drugs. We have so far screened a genomic region of 4068.3 kb, and identified a total of 7552 genetic variations, including 6733 SNP and 819 genetic variations of other types among 267 genes in Japanese populations. Interestingly, among the 212 non‐synonymous substitutions we found, six would be considered to be nonsense mutations. In this review, we focused on the molecular features of the non‐synonymous substitutions and insertion/deletion polymorphisms within coding regions detected in drug‐related gene loci. The database established in this study makes us confident of achieving one of our goals, which is establishment of personalized medicine. ( Cancer Sci 2006; 97: 16–24)