Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1, and L1CAM in the Japanese population

Sekine, Akihiro; Saito, Susumu; Iida, Aritoshi; Mitsunobu, Yukari; Higuchi, Sadaharu; Harigae, Satoko; Nakamura, Yusuke

doi:10.1007/s100380170065

Cited by 68 publications

(34 citation statements)

References 25 publications

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“…To achieve this aim, we have been conducting extensive screening programs to isolate SNPs in the Japanese population. Particularly, we have focused on SNP mapping in 209 genomic regions that correspond to genes involved in the metabolism of drugs and have constructed high-density SNP maps containing more than 6,500 genetic variations (Iida et al ,b,c,d,e, 2002a(Iida et al ,b,c,d, 2003Saito et al 2001aSaito et al ,b, 2002aSaito et al ,b,c,d, 2003aSekine et al 2001). Moreover, these efforts have allowed us to identify a total of five mutations that may affect the gene products, including two nonsense mutations in CYPgenes and three frame-shift mutations (two in CYP genes and one in the MGST1 gene) among Japanese healthy donors (see a review by .…”

Section: Introductionmentioning

confidence: 99%

Catalog of 300 SNPs in 23 genes encoding G-protein coupled receptors

et al. 2004

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We previously published a series of detailed maps of single nucleotide polymorphisms (SNPs) in the genomic regions of 209 gene loci encoding drug metabolizing enzymes, transporters, receptors, and other potential drug targets. In addition to the maps reported earlier, we provide here high-resolution SNP maps of 23 genes encoding G-protein coupled receptors in the Japanese population. A total of 300 SNPs were identified through screening of these loci; 83 in four adenosine receptor family genes, 45 in three adrenergic receptor family genes, 22 in three EDG receptor family genes, 29 in three melanocortin receptor family genes, 22 in two somatostatin receptor family genes, 21 in five anonymous G protein-coupled receptor family genes, and 78 in the others (AVPR1B, OXTR, and TNFRSF1A). We also discovered a total of 33 genetic variations of other types. Of the 300 SNPs, 132 (44%) appeared to be novel on the basis of comparisons with the dbSNP database of the National Center for Biotechnology Information (US) or with previous publications. The maps constructed in this study will serve as an additional resource for studies of complex genetic diseases and drug-response phenotypes to be mapped by linkage-disequilibrium association analyses.

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Section: Introductionmentioning

confidence: 99%

Catalog of 300 SNPs in 23 genes encoding G-protein coupled receptors

et al. 2004

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“…To establish the bases of SNP information for genetic studies of complex diseases and responsiveness to drug therapy, we have been focusing on isolating SNPs in gene loci encoding proteins involved in the metabolism, transport, and signaling of drugs. So far, high-density SNP maps containing approximately 6,800 genetic variations have been constructed (Iida et al 2001a,b,c,d,e;2002a,b,c,d;2003;2004;Saito et al 2001a,b;2002a,b,c,d;2003a,b;Sekine et al 2001). Furthermore, we reported several distinct mutations in the genes encoding drug metabolizing enzymes and potential drug receptors among Japanese healthy donors (a review by Iida et al 2004).…”

Section: Introductionmentioning

confidence: 65%

Identification of 20 novel SNPs in the guanine nucleotide binding protein alpha 12 gene locus

et al. 2004

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Heterotrimeric guanine nucleotide binding proteins (G proteins) regulate various signals from transmembrane receptors to intracellular effectors thereby mediating cell growth, differentiation, and apoptosis. We have been publishing a series of genetic variations detected in the genomic regions corresponding to the potential drug target genes. As an addition to genetic information reported earlier, we provide here 20 novel single nucleotide polymorphisms (SNPs) in the region corresponding to a gene encoding a subunits of G 12 protein, GNA12, in the Japanese population: 16 in introns, two in the coding region, and two in the 3¢ flanking region. We also identified 12 genetic variations of other types from this locus. The collection of genetic variations reported here will serve as a useful resource for analyzing potential associations between genotypes and susceptibility to common diseases as well as efficacy and/or adverse reactions to drugs.

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“…In the near future, the genomic approach, combining the large collection of SNPs and high-throughput genotyping procedures based on that information, is likely to revolutionize drug discovery and development as well as the practice of medicine (Gray et al 2000;Meyer 2000;Roses 2000). Recently, we have focused on genetic loci corresponding to drug-metabolizing enzymes and transporters and have already described more than 1500 variations in those regions (Iida et al -e, 2002aSaito et al 2001aSaito et al ,b, 2002aSekine et al 2001).…”

Section: Introductionmentioning

confidence: 99%