Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Pedersen, R.S. et al.

Rasmus S. Pedersen, Charlotte Brasch-Andersen, Sarah C. Sim, Troels K. Bergmann, Jónrit Halling, Maria S. Petersen, Pál Weihe, Hege Edvardsen, Vessela N. Kristensen, Kim Brøsen, Magnus Ingelman-Sundberg,

Linkage disequilibrium between the CYP2C19*17 allele and wildtype CYP2C8 and CYP2C9 alleles: identification of CYP2C haplotypes in healthy Nordic populations.

PURPOSE: To determine the distribution of clinically important CYP2C genotypes and allele frequencies in healthy Nordic populations with special focus on linkage disequilibrium. METHODS: A total of 896 healthy subjects from three Nordic populations (Danish, Faroese, and Norwegian) were genotyped for five frequent and clinically important CYP2C allelic variants: the defective CYP2C8*3, CYP2C9*2, CYP2C9*3, and CYP2C19*2 alleles, and the CYP2C19*17 allele that causes rapid drug metabolism. Linkage disequilibrium was evaluated and CYP2C haplotypes were inferred in the entire population. RESULTS: Ten CYP2C haplotypes were inferred, the most frequent of which (49%) was the CYP2C wildtype haplotype carrying CYP2C8*1, CYP2C9*1, and CYP2C19*1. The second most frequent haplotype (19%) is composed of CYP2C19*17, CYP2C8*1, and CYP2C9*1. This predicted haplotype accounts for 99.7% of the CYP2C19*17 alleles found in the 896 subjects. CONCLUSION: CYP2C19*17 is a frequent genetic variant in Nordic populations that exists in strong linkage disequilibrium with wildtype CYP2C8*1 and CYP2C9*1 alleles, which effectively makes it a determinant for a haplotype exhibiting an efficient CYP2C substrate metabolism.[1]

References

Linkage disequilibrium between the CYP2C19*17 allele and wildtype CYP2C8 and CYP2C9 alleles: identification of CYP2C haplotypes in healthy Nordic populations. Pedersen, R.S., Brasch-Andersen, C., Sim, S.C., Bergmann, T.K., Halling, J., Petersen, M.S., Weihe, P., Edvardsen, H., Kristensen, V.N., Brøsen, K., Ingelman-Sundberg, M. Eur. J. Clin. Pharmacol. (2010) [Pubmed]

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