Genetic variations and haplotypes of UDP-glucuronosyltransferase 1A locus in a Korean population

Therapeutic Drug Monitoring

Volumn 30, Issue 1, 2008, Pages 23-34

  Yea, Sung Su ^a   Lee, Sang Seop ^a   Kim, Woo Young ^a   Liu, Kwang Hyeon ^a   Kim, Hyojin ^a   Shon, Ji Hong ^a,b   Cha, In June ^a   Shin, Jae Gook ^a,b  

^a Inje University   (South Korea)

^b Inje University College of Medicine   (South Korea)

Author keywords

Ethnicity; Haplotype; Korean; Polymorphism; UGT1A

Indexed keywords

CHLORPROMAZINE; COUMARIN DERIVATIVE; GENOMIC DNA; GLUCURONOSYLTRANSFERASE 1A1; HYDROXYCOUMARIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ETHNIC DIFFERENCE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GLUCURONIDATION; HAPLOTYPE; HUMAN; KOREA; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PHARMACOGENOMICS; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GLUCURONOSYLTRANSFERASE; HAPLOTYPES; HUMANS; KOREA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 38549129869     PISSN: 01634356     EISSN: None     Source Type: Journal    
DOI: 10.1097/FTD.0b013e3181633824     Document Type: Article

References (21)

1. Dutton GJ. Glucuronidation of Drugs and Other Compounds. Boca Raton, FL: CRC Press; 1980.
2. Mackenzie PI, Owens IS, Burchell B, et al. The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics. 1997;7:255-269.
3. Tukey RH, Strassburg CP. Human UDP-glucuronosyltransferases: metabolism, expression, and disease. Annu Rev Pharmacol Toxicol. 2000;40:581-616.
4. Radominska-Pandya A, Czernik PJ, Little JM, et al. Structural and functional studies of UDP-glucuronosyltransferases. Drug Metab Rev. 1999;31:817-899.
5. Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995;233:1171-1175.
6. Beutler EGT, Demina A. Racial variability in the UDP-glucuronosyl- transferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA. 1998;95:8170-8174.
7. Monaghan G, Ryan M, Seddon R, et al. Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet. 1996;347:578-581.
8. Kohle C, Mohrle B, Munzel PA, et al. Frequent co-occurrence of the TATA box mutation associated with Gilbert's syndrome (UGT1A1*28) with other polymorphisms of the UDP-glucuronosyltransferase-1 locus (UGT1A6*2 and UGT1A7*3) in Caucasians and Egyptians. Biochem Pharmacol. 2003;65:1521-1527.
9. Saeki M, Saito Y, Jinno H, et al. Haplotype structures of the UGT1A gene complex in a Japanese population. Pharmacogenomics J. 2006;6:63-75.
10. Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science. 2002;296:2225-2229.
11. Carlson CS, Eberle MA, Rieder MJ, et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet. 2004;74:106-120.
12. Barbier O, Belanger A, Hum DW. Cloning and characterization of a simian UDP-glucuronosyltransferase enzyme UGT2B20, a novel C19 steroid-conjugating protein. Biochem J. 1999;337:567-574.
13. Green MD, Bishop WP, Tephly TR. Expressed human UGT1.4 protein catalyzes the formation of quaternary ammonium-linked glucuronides. Drug Metab Dispos. 1995;23:299-302.
14. Lehman JP, Fenselau C, Depaulo JR. Quaternary ammonium-linked glucuronides of amitriptyline, imipramine, and chlorpromazine. Drug Metab Dispos. 1983;11:221-225.
15. Wang Q, Ye C, Jia R, et al. Inter-species comparison of 7-hydroxycoumarin glucuronidation and sulfation in liver S9 fractions. In Vitro Cell Dev Biol Anim. 2006;42:8-12.
16. Saeki M, Saito Y, Jinno H, et al. Genetic polymorphisms of UGT1A6 in a Japanese population. Drug Metab Pharmacokinet. 2005;20:85-90.
17. Ki CS, Lee KA, Lee SY, et al. Haplotype Structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population. Clin Chem. 2003;49:2078-2081.
18. Carlini LE, Meropol NJ, Bever J, et al. UGT1A7 and UGT1A9 polymorphisms predict response and toxicity in colorectal cancer patients treated with capecitabine/irinotecan. Clin Cancer Res. 2005;11:1226-1236.
19. Olsson R, Bliding A, Jagenburg R, et al. Gilbert's syndrome-does it exist? A study of the prevalence of symptoms in Gilbert's syndrome. Acta Med Scand. 1988;224:485-490.
20. Owens D, Evans J. Population studies on Gilbert's syndrome. J Med Genet. 1975;12:152-156.
21. Kim YH, Yeon JE, Jung GM, et al. A study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome. Taehan Kan Hakhoe Chi. 2002;8:132-138.