Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han

Genetics and Molecular Biology

Volumn 35, Issue 2, 2012, Pages 428-434

  Zhang, Xiaoqing ^a   Ao, Guokun ^b   Wang, Yuewen ^a   Yan, Wei ^a   Wang, Min ^a   Chen, Erfei ^a   Yang, Fangfang ^a   Yang, Jin ^a  

^a NORTHWEST UNIVERSITY   (China)

^b 309TH HOSPITAL OF PLA   (China)

Author keywords

Chinese Han; Genetic polymorphisms; Haplotype; UGT1A

Indexed keywords

ARGININE; CYSTEINE; GLUCURONOSYLTRANSFERASE 1A1; GLUCURONOSYLTRANSFERASE 1A7; GLUCURONOSYLTRANSFERASE 1A9; MICRORNA;

3' UNTRANSLATED REGION; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; EXON; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN EXPERIMENT; INTRON; MALE; NORMAL HUMAN; PERSONALIZED MEDICINE; PHENOTYPE; PROTEIN CONFORMATION; SINGLE NUCLEOTIDE POLYMORPHISM; UDP GLUCURONOSYLTRANSFERASE 1A1 GENE; UDP GLUCURONOSYLTRANSFERASE 1A9 GENE; UDP GLUCURONOSYLTRANSFERASE1A7 GENE;

EID: 84863687628     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572012005000036     Document Type: Article

References (36)

1. Barrett JC, Fry B, Maller J and Daly MJ (2005) Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265.
2. Binkowski TA, Naghibzadeh S and Liang J (2003) CASTp: Computed atlas of surface topography of proteins. Nucleic Acids Res 31:3352-3355.
3. Borucki K, Weikert C, Fisher E, Jakubiczka S, Luley C, Westphal S and Dierkes J (2009) Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers. Clin Biochem 42:1635-1641.
4. Cecchin E, Innocenti F, D'Andrea M, Corona G, Mattia ED, Biason P, Buonadonna A and Toffoli G (2009) Predictive role of the UGT1A1, UGT1A7 and UGT1A9 genetic variants and their haplotypes on the outcome of metastatic colorectal cancer patients treated with fluorouracil, leucovorin and irinotecan. J Clin Oncol 27:2457-2465.
5. Chen K, Jin MJ, Zhu YM, Jiang QT, Yu WP, Ma XY and Yao KY (2006) Genetic polymorphisms of the uridine diphosphate glucuronosyltransferase 1A7 and colorectal cancer risk in relation to cigarette smoking and alcohol drinking in a Chinese population. J Gastroenterol Hepatol 21:1036-1041.
6. Chen K, Song F, Calin GA, Wei Q, Hao X and Zhang W (2008) Polymorphisms in microRNA targets: A gold mine for molecular epidemiology. Carcinogenesis 29:1306-1311.
7. Chu XY, Liang YX, Cai XX, Cuevas-Licea K, Rippley RK, Kassahun K, Shou M, Braun MP, Doss GA, Anari MR, et al. (2009) Metabolism and renal elimination of gaboxadol in humans: Role of UDP-glucuronosyltransferases and transporters. Pharm Res 26:459-468.
8. Clark AG (2004) The role of haplotypes in candidate gene studies. Genet Epidemiol 27:321-333.
9. Cummins JM, He YP, Leary RJ, Pagliarini R, Diaz LA, Barad O, Sjoblom T, Bentwich Z, Szafranska AE, Labourier E, et al. (2006) The colorectal microRNAome. Proc Natl Acad Sci USA 103:3687-3692.
10. EvansWEand Johnson JA (2001) Pharmacogenomics: The inherited basis for interindividual differences in drug response. Annu Rev Genomics Hum Genet 2:9-39.
11. Gagné JF, Montminy V, Belanger P, Journault K, Gaucher G and Guillemette C (2002) Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38). Mol Pharmacol 62:608-617.
12. Gong QH, Cho JW, Huang T, Potter C, Gholami N, Basu NK, Kubota S, Carvalho S, Pennington MW, Owens IS, et al. (2001) Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. Pharmacogenetics 11:357-368.
13. Guillemette C, Ritter JK, Auyeung DJ, Kessler FK and Housman DE (2000) Structural heterogeneity at the UDP-glucuronosyltransferase 1 locus: Functional consequences of three novel missense mutations in the human UGT1A7 gene. Pharmacogenetics 10:629-644.
14. Heinemeyer T, Wingender E, Reuter I, Hermjakob H, Kel AE, Kel OV, Ignatieva EV, Ananko EA, Podkolodnaya OA, Kolpakov FA, et al. (1998) Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res 26:364-370.
15. Huang CS, Luo GA, Huang MJ, Yu SC and Yang SS (2000) Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese. Pharmacogenetics 10:539-544.
16. Judson R, Stephens JC and Windemuth A (2000) The predictive power of haplotypes in clinical response. Pharmacogenomics 1:15-26.
17. Kertesz M, Iovino N, Unnerstall U, Gaul U and Segal E (2007) The role of site accessibility in microRNA target recognition. Nat Genet 39:1278-1284.
18. King CD, Rios GR, Green MD and Tephly TR (2001) UDP-glucuronosyltransferases. Curr Drug Metab 1:143-161.
19. Kitsios GD and Zintzaras E (2009) Genomic convergence of genome-wide investigations for complex traits. Ann Hum Genet 73:514-519.
20. Marinescu VD, Kohane IS and RivaA(2005) MAPPER:Asearch engine for the computational identification of putative transcription factor binding sites in multiple genomes. BMC Bioinformatics 6:e79.
21. Miners JO, McKinnon RA and Mackenzie PI (2002) Genetic polymorphisms of UDP-glucuronosyltransferases and their functional significance. Toxicology 181:453-456.
22. Mishra PJ, Humeniuk R, Longo-Sorbello GS, Banerjee D and Bertino JR (2007) A miR-24 microRNA binding-site polymorphism in dihydrofolate reductase gene leads to methotrexate resistance. Proc Natl Acad Sci USA 104:13513-13518.
23. Okuda T, Fujioka Y, Kamide Y, Kawano Y, Goto Y, Yoshimasa Y, Tomoike H, Iwai N, Hanai S and Miyata T (2002) Verification of 525 coding SNPs in 179 hypertension candidate genes in the Japanese population: Identification of 159 SNPs in 93 genes. J Hum Genet 47:387-394.
24. Peitsch MC, Wilkins MR, Tonella L, Sanchez JC, Appel RD and Hochstrasser DF (1997) Large scale protein modelling and integration with the SWISS-PROT and SWISS-2DPAGE databases: The example of Escherichia coli. Electrophoresis 18:498-501.
25. Ramensky V, Bork P and Sunyaev S (2002) Human non-synonymous SNPs: Server and survey. Nucleic Acids Res 30:3894-3900.
26. Saeki M, Saito Y, Jinno H, Sai K, Ozawa S, Kurose K, Kaniwa N, Komamura K, Kotake T, Morishita H, et al. (2006) Haplotype structures of the UGT1A gene complex in a Japanese population. Pharmacogenomics J 6:63-75.
27. Tang KS, Chiu HF, Chen HH, Eng HL, Tsai CJ, Teng HC and Huang CS (2005) Link between colorectal cancer and polymorphisms in the uridine-diphosphoglucuronosyl transferase 1A7 and 1A1 genes. World J Gastroenterol 11:3250-3254.
28. Thomas PD, Campbell MJ, Kejariwal A, Mi H, Karlak B, Daverman R, Diemer K, Muruganujan A and Narechania A (2003) PANTHER: A library of protein families and subfamilies indexed by function. Genome Res 13:2129-2141.
29. Thomas PD and Kejariwal A (2004) Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects. Proc Natl Acad Sci USA 101:15398-15403.
30. Thomas SS, Li SS, Lampe JW, Potter JD and Bigler J (2006) Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locus. Hum Mutat 27:e717.
31. Tukey RH and Strassburg CP (2000) Human UDP-glucuronosyltransferases: Metabolism, expression, and disease. Annu Rev Pharmacol Toxicol 40:581-616.
32. Verlaan M, te Morsche RHM, Pap A, Laheij RJF, Jansen JBMJ, Peters WHM and Drenth JPH (2004) Functional polymorphisms of UDP-glucuronosyltransferases 1A1, 1A6, and 1A8 are not involved in chronic pancreatitis. Pharmacogenetics 14:351-357.
33. Villeneuve L, Girard H, Fortier LC, Gagné JF and Guillemette C (2003) Novel functional polymorphisms in the UGT1A7 and UGT1A9 glucuronidating enzymes in Caucasian and African American subjects and their impact on the metabolism of 7-ethyl-10-hydroxycamptothecin and flavopiridol anticancer drugs. J Pharmacol Exp Ther 307:117-128.
34. Yea SS, Lee SS, Kim WY, Liu KH, Kim H, Shon JH, Cha IJ and Shin JG (2008) Genetic variations and haplotypes of UDPglucuronosyltransferase 1A locus in a Korean population. Ther Drug Monit 30:23-34.
35. Zhang A, Xing Q, Qin S, Du J, Wang L, Yu L, Li X, Xu L, Xu M, Feng G, et al. (2007) Intra-ethnic differences in genetic variants of the UGT-glucuronosyltransferase 1A1 gene in Chinese populations. Pharmacogenomics J 7:333-338.
36. Zhou YY, Lee LY, Ng SY, Hia CPP, Low KT, Chong YS and Goh DLM (2009) UGT1A1 haplotype mutation among Asians in Singapore. Neonatology 96:150-155.