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PII‐24
Author(s) -
Bhathena A.,
Mueller T.,
Grimm D. R.,
Idler K. B.,
Tsurutani A. C.,
Katz D. A.
Publication year - 2006
Publication title -
clinical pharmacology and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.941
H-Index - 188
eISSN - 1532-6535
pISSN - 0009-9236
DOI - 10.1016/j.clpt.2005.12.149
Subject(s) - genetics , allele frequency , polymorphism (computer science) , genotype , allele , pseudogene , biology , pharmacogenetics , population , ethnic group , frameshift mutation , pyrosequencing , genotype frequency , phenotype , medicine , gene , environmental health , genome , sociology , anthropology
BACKGROUND Polymorphisms within cytochrome P450 2D6 ( CYP2D6) result in different metabolizer phenotypes, but some discordance suggests the possibility of additional unknown alleles or factors contributing to metabolism. A recent study showed a high frequency frameshift‐causing deletion, CYP2D7 138delT, which converted the CYP2D7 pseudogene to a functional gene within the brain. 1 The high frequency of the deletion and the resulting CYP2D7 expression could have important implications for brain‐specific metabolism of psychoactive substances. Our goal was to determine the frequency of this deletion in a larger ethnically diverse population. METHODS The CYP2D7 138delT genotypes for 163 Caucasians, 95 East Asians, 50 South Asians, 68 Hispanic Latinos, and 68 African Americans were determined by Pyrosequencing. RESULTS The 138delT allele was observed at a frequency of 1.0% in East Asians and 0.74% in Hispanic Latinos. The deletion was not observed in the other ethnic populations. CONCLUSIONS The very low frequency of the CYP2D7 138delT polymorphism in our panel is in contrast to the high frequency (50%) reported in the Indian population. 1 Our results suggest that CYP2D7 138delT is unlikely to be highly relevant for population variation of pharmacokinetics or drug response. Clinical Pharmacology & Therapeutics (2005) 79 , P42–P42; doi: 10.1016/j.clpt.2005.12.149