Exon sequencing and association analysis of EPHX1 genetic variants with maintenance warfarin dose in a multiethnic Asian population

Pharmacogenetics and Genomics

Volumn 21, Issue 1, 2011, Pages 35-41

  Chan, Sze Ling ^a   Thalamuthu, Anbupalam ^a,b   Goh, Boon Cher ^c   Chia, Kee Seng ^a   Chuah, Benjamin ^c   Wong, Andrea ^c   Lee, Soo Chin ^c  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b GENOME INSTITUTE OF SINGAPORE   (Singapore)

^c NATIONAL UNIVERSITY HEALTH SYSTEM   (Singapore)

Author keywords

EPHX1; exon sequencing; pharmacogenetics; rare variant; warfarin

Indexed keywords

WARFARIN;

ADULT; ARTICLE; ASIAN; EPHX1 GENE; ETHNIC GROUP; EXON; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAINTENANCE THERAPY; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78650678975     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e328341b68f     Document Type: Article

References (31)

1. Zhao F, Loke C, Rankin SC, Guo JY, Lee HS, Wu TS, et al. Novel CYP2C9 genetic variants in Asian subjects and their influence on maintenance warfarin dose. Clin Pharmacol Ther 2004; 76:210-219
2. Lee SC, Ng SS, Oldenburg J, Chong PY, Rost S, Guo JY, et al. Interethnic variability of warfarin maintenance requirement is explained by VKORC1 genotype in an Asian population. Clin Pharmacol Ther 2006; 79:197-205
3. Tham LS, Goh BC, Nafziger A, Guo JY, Wang LZ, Soong R, et al. A warfarin-dosing model in Asians that uses single nucleotide polymorphisms in vitamin K epoxide reductase complex and cytochrome P450 2C9. Clin Pharmacol Ther 2006; 80:346-355
4. Wadelius M, Chen LY, Eriksson N, Bumpstead S, Ghori J, Wadelius C, et al. Association of warfarin dose with genes involved in its action and metabolism. Hum Genet 2007; 121:23-34
5. Shikata E, Ieiri I, Ishiguro S, Aono H, Inoue K, Koide T, et al. Association of pharmacokinetic (CYP2C9) and pharmacodynamic (factors II, VII, IX, and X; proteins S and C; and g-glutamyl carboxylase) gene variants with warfarin sensitivity. Blood 2004; 103:2630-2635
6. Vecsler M, Loebstein R, Almog S, Kurnik D, Goldman B, Halkin H, et al. Combined genetic profiles of components and regulators of the vitamin K-dependent g-carboxylation system affect individual sensitivity to warfarin. Thromb Haemost 2006; 95:205-211
7. Wang TL, Li HL, Tjong WY, Chen QS, Wu GS, Zhu HT, et al. Genetic factors contribute to patient-specific warfarin dose for Han Chinese. Clin Chim Acta 2008; 396:76-79
8. Stafford D. The vitamin K cycle. Thromb Haemost 2005; 3:1873-1878
9. Cain D, Hutson SM, Wallin R. Assembly of the warfarin-sensitive vitamin K 2,3-epoxide reductase enzyme complex in the endoplasmic reticulum membrane. J Biol Chem 1997; 272:29068-29075
10. Guenthner TM, Cai D, Wallin R. Copurification of microsomal epoxide hydrolase with the warfarin-sensitive vitamin K1 oxide reductase of the vitamin K cycle. Biochem Pharmacol 1998; 55:169-175
11. Wallin R, Guenthner TM. Purification of warfarin-sensitive vitamin K epoxide reductase. Methods Enzymol 1997; 282:395-408
12. Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hö rtnagel K, Pelz HJ, et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 2004; 427:537-541
13. Chu P, Huang T, Williams J, Stafford D. Purified vitamin K epoxide reductase alone is sufficient for conversion of vitamin K epoxide to vitamin K and vitamin K to vitamin KH2. Proc Natl Acad Sci USA 2006; 103: 19308-19313
14. Wajih N, Hutson S, Wallin R. Disulfide-dependent protein folding is linked to operation of the vitamin K cycle in the endoplasmic reticulum: a protein disulfide isomerase-VKORC1 redox enzyme complex appears to be responsible for vitamin K1 2,3-epoxide reduction. J Biol Chem 2007; 282:2626-2635
15. Loebstein R, Vecsler M, Kurnik D, Austerweil N, Gak E, Halkin H, et al. Common genetic variants of microsomal epoxide hydrolase affect warfarin dose requirements beyond the effect of cytochrome P450 2C9. Clin Pharmacol Ther 2005; 77:365-372
16. Pautas E, Moreau C, Gouin-Thibault I, Golmard JL, Mahé I, Legendre C, et al. Genetic factors (VKORC1, CYP2C9, EPHX1, and CYP4F2) are predictor variables for warfarin response in very elderly, frail inpatients. Clin Pharmacol Ther 2010; 87:57-64
17. Lee M, Chen C, Chou C, Lu L, Chuang H, Chen Y, et al. Genetic determinants of warfarin dosing in the Han-Chinese population. Pharmacogenomics 2009; 10:1905-1913
18. Teo YY, Sim X, Ong RTH, Tan AKS, Chen J, Tantoso E, et al. Singapore genome variation project: a haplotype map of three southeast Asian populations. Genome Res 2009; 19:2154-2162
19. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81:559-575
20. Wigginton JE, Cutler DJ, Abecasis GR. A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 2005; 76:887-893
21. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-265
22. Gabriel S, Schaffner S, Nguyen H, Moore J, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Science 2002; 296:2225-2229
23. Morris AP, Zeggini E. An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol 2010; 34:188-193
24. Liang S, Hassett C, Omiecinski C. Alternative promoters determine tissue-specific expression profiles of the human microsomal epoxide hydrolase gene (EPHX1). Mol Pharmacol 2005; 67:220-230
25. Yang X, Liang SH, Weyant DM, Lazarus P, Gallagher CJ, Omiecinski CJ. The expression of human microsomal epoxide hydrolase is predominantly driven by a genetically polymorphic far upstream promoter. J Pharmacol Exp Ther 2009; 330:23-30
26. Yamaguchi-Kabata Y, Shimada MK, Hayakawa Y, Minoshima S, Chakraborty R, Gojobori T, et al. Distribution and effects of nonsense polymorphisms in human genes. PloS One 2008; 3:e3393
27. PolyPhen: prediction of functional effect of human nsSNPs [Internet]. 2010 [cited 2010/01/01]. Available from: http://genetics.bwh.harvard.edu/pph/
28. Sagreiya H, Berube C, Wen A, Ramakrishnan R, Mir A, Hamilton A, et al. Extending and evaluating a warfarin dosing algorithm that includes CYP4F2 and pooled rare variants of CYP2C9. Pharmacogenet Genomics 2010; 20:407-413
29. Nebert DW. Extreme discordant phenotype methodology: an intuitive approach to clinical pharmacogenetics. Eur J Pharmacol 2000; 410: 107-120
30. Cooper GM, Johnson JA, Langaee TY, Feng H, Stanaway IB, Schwarz UI, et al. A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood 2008; 112:1022-1027
31. Carlquist JF, Horne BD, Mower C, Park J, Huntinghouse J, McKinney JT, et al. An evaluation of nine genetic variants related to metabolism and mechanism of action of warfarin as applied to stable dose prediction. J Thromb Thrombolysis 2010; 30:358-364