A catalogue of polymorphisms related to xenobiotic metabolism and cancer susceptibility.
High-throughput genotyping technology of multiple genes based on large samples of cases and controls are likely to be important in identifying common genes which have a moderate effect on the development of specific diseases. We present here a comprehensive list of 313 known experimentally confirmed polymorphisms in 54 genes which are particularly relevant for metabolism of drugs, alcohol, tobacco, and other potential carcinogens. We have compiled a catalog with a standardized format that summarizes the genetic and biochemical properties of the selected polymorphisms. We have also confirmed or redesigned experimental conditions for simplex or multiplex PCR amplification of a subset of 168 SNPs of particular interest, which will provide the basis for the design of assays compatible with high-throughput genotyping.
Gemignani
Federica
F
Genome Analysis Group, International Agency for Research on Cancer, Lyon, France.
Landi
Stefano
S
Vivant
Franck
F
Zienolddiny
Shanbeh
S
Brennan
Paul
P
Canzian
Federico
F
D003577:Cytochrome P-450 Enzyme System / Q000235:genetics* / Q000378:metabolism; D011088:DNA Ligases / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D016208:Databases, Factual; D016147:Genes, Tumor Suppressor / Q000502:physiology*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009369:Neoplasms / Q000235:genetics* / Q000378:metabolism*; D010597:Pharmacogenetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D014029:Tobacco Use Disorder / Q000235:genetics*; D015262:Xenobiotics / Q000378:metabolism*
D012333:RNA, Messenger; D015262:Xenobiotics; D003577:Cytochrome P-450 Enzyme System; D011088:DNA Ligases