Genetic Polymorphisms of Glycine N-acyltransferase in Japanese Individuals

被引：12

作者：

Yamamoto, Akiko ^{[1
]}

Nonen, Shinpei ^{[1
]}

Fukuda, Tsuyoshi ^{[1
,2
]}

Yamazaki, Hiroshi ^{[3
]}

Azuma, Junichi ^{[1
]}

机构：

[1] Osaka Univ, Grad Sch Pharmaceut Sci, Suita, Osaka 5650871, Japan

[2] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA

[3] Showa Pharmaceut Univ, Tokyo, Japan

来源：

DRUG METABOLISM AND PHARMACOKINETICS | 2009年 / 24卷 / 01期

关键词：

glycine N-acyltransferase; nonsynonymous; novel SNP; Japanese; LIVER-MITOCHONDRIA; IDENTIFICATION; ELIMINATION; SALICYLATE; NITROGEN;

D O I：

10.2133/dmpk.24.114

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

In the present study, we identified 5 novel single nucleotide polymorphisms (SNPs) in the gene of acyltransferase (GlyAT) by resequencing the entire coding region and the exon-intron junctions from 95 Japanese individuals. The allelic frequencies of 5 novel SNPs were 0.016 for -695T > C, 0.021 for -260C > T, 0.005 for 290C > T, 0.005 for 19371G > A, and 0.005 for 21289G > A. Genetic variants of -979C > G and 21409A > G were in perfect linkage disequilibrium with 21364A > G and 21422C > T, respectively. The nonsynonymous SNP, 21289G > A (Arg131His) in exon 5, was also genotyped in 31 Caucasian individuals, but none of them possessed 21289A (131His) allele.

引用

页码：114 / 117

页数：4

共 14 条

[1] NEW PATHWAYS OF NITROGEN-EXCRETION IN INBORN-ERRORS OF UREA SYNTHESIS
BRUSILOW, SW
VALLE, DL
BATSHAW, ML
[J]. LANCET, 1979, 2 (8140) : 452 - 454
[2] SYNTHESIS OF HIPPURATE FROM BENZOATE AND GLYCINE BY RAT-LIVER MITOCHONDRIA - SUBMITOCHONDRIAL LOCALIZATION AND KINETICS
GATLEY, SJ
SHERRATT, HSA
[J]. BIOCHEMICAL JOURNAL, 1977, 166 (01) : 39 - 47
[3] Hutt A. J., 1990, Conjugation Reactions in Drug Metabolism, P273
[4] Relationship between CYP2C9 and 2C19 genotypes and tolbutamide methyl hydroxylation and S-mephenytoin 4'-hydroxylation activities in livers of Japanese and Caucasian populations
Inoue, K
Yamazaki, H
Imiya, K
Akasaka, S
Guengerich, FP
Shimada, T
[J]. PHARMACOGENETICS, 1997, 7 (02): : 103 - 113
[5] CHARACTERIZATION OF THE ACYL-COA-AMINO ACID N-ACYLTRANSFERASES FROM PRIMATE LIVER-MITOCHONDRIA
KELLEY, M
VESSEY, DA
[J]. JOURNAL OF BIOCHEMICAL TOXICOLOGY, 1994, 9 (03): : 153 - 158
[6] KILLENBERG PG, 1971, MOL PHARMACOL, V7, P260
[7] PHARMACOKINETICS OF SALICYLATE ELIMINATION IN MAN
LEVY, G
[J]. JOURNAL OF PHARMACEUTICAL SCIENCES, 1965, 54 (07) : 959 - &
[8] Developmental profile of mitochondrial glycine N-acyltransferase in human liver
Mawal, Y
Paradis, K
Qureshi, IA
[J]. JOURNAL OF PEDIATRICS, 1997, 130 (06) : 1003 - 1007
[9] Phase I and phase II enzyme polymorphisms and childhood cancer
Swinney, Ryan
Hsu, Stephanie
Tomlinson, Gail
[J]. JOURNAL OF INVESTIGATIVE MEDICINE, 2006, 54 (06) : 303 - 320
[10] TANAKA K, 1967, J BIOL CHEM, V242, P2966

← 1 2 →