Validation of the performance of a comprehensive genotyping assay panel of single nucleotide polymorphisms in drug metabolism enzyme genes

Human Mutation

Volumn 29, Issue 5, 2008, Pages 750-756

  Welch, Robert A ^a,b   Lazaruk, Katherine ^c   Haque, Kashif A ^a,b   Hyland, Fiona ^c   Xiao, Nianqing ^a,b   Wronka, Loni ^a,b   Burdett, Laura ^a,b   Chanock, Stephen J ^a   Ingber, Daniel ^c   De La Vega, Francisco M ^c   Yeager, Meredith ^a,b  

^a NATIONAL CANCER INSTITUTE   (United States)

^b SAIC FREDERICK INC   (United States)

^c APPLIED BIOSYSTEMS   (United States)

Author keywords

Assay validation; DME; Drug metabolizing enzyme; Genetic variation; Multiethnic control samples

Indexed keywords

DRUG METABOLIZING ENZYME;

ARTICLE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ENZYMES; GENOTYPE; HUMANS; MUTATION; PHARMACEUTICAL PREPARATIONS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 42949147396     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20703     Document Type: Article

References (10)

1. Barrett JC, Cardon LR. 2006. Evaluating coverage of genome-wide association studies. Nat Genet 38:659-662. [Comment in: Nat Genet 2006;38:605-606].
2. Cann HM, de Toma C, Cazes L, Legrand MF, Morel V, Piouffre L, Bodmer J, Bodmer WF, Bonne-Tamir B, Cambon-Thomsen A, Chen Z, Chu J, Carcassi C, Contu L, Du R, Excoffier L, Ferrara GB, Friedlaender JS, Groot H, Gurwitz D, Jenkins T, Herrera RJ, Huang X, Kidd J, Kidd KK, Langaney A, Lin AA, Mehdi SQ, Parham P, Piazza A, Pistillo MP, Qian Y, Shu Q, Xu J, Zhu S, Weber JL, Greely HT, Feldman MW, Thomas G, Dausset J, Cavalli-Sforza LL. 2002. A human genome diversity cell line panel. Science 296:261-262.
3. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. 2004. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 74:106-120.
4. Ingelman-Sundberg M, Oscarson M, McLellan RA. 1999. Polymorphic human cytochrome P450 enzymes: an opportunity for individualized drug treatment. Trends Pharmacol Sci 20:342-349.
5. International HapMap Consortium. 2003. International HapMap Project. Nature 426:789-796.
6. Neber DW, Roe AL. 2001. Ethnic and genetic differences in metabolism genes and risk of toxicity and cancer. Sci Total Environ 274:93-102.
7. Packer BR, Yeager M, Burdett L, Welch R, Beerman M, Qi L, Sicotte H, Staats B, Acharya M, Crenshaw A, Eckert A, Puri V, Gerhard DS, Chanock SJ. 2006. SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. Nucleic Acids Res 34(Database issue): D617-D621.
8. Solus JF, Arietta BJ, Harris JR, Sexton DP, Steward JQ, McMunn C, Ihrie P, Mehall JM, Edwards TL, Dawson EP. 2004. Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. Pharmacogenomics 5:895-931.
9. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, and many others. 2001. The sequence of the human genome. Science 291:1304-1351.
10. Xu C, Li CY, Kong AN. 2005. Induction of phase I, II and III drug metabolism/transport by xenobiotics. Arch Pharm Res 28:249-268.