Clinical Annotations
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Variant Annotations
PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed
publications. Each annotation represents information from a single paper and the goal is to report the
information that the author states, not an interpretation of the paper. The PMID for supporting PubMed
publications is found in the "Evidence" field.
Information presented, including study size, allele frequencies and statistics is taken directly from the
publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators
may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of
participants used for the calculation of the association statistics, so the number may vary slightly
from what is reported in the abstract of the paper. OMB Race Category information is derived from the
paper and mapped to standardized categories. Category definitions may be found by clicking on the
"OMB Race Category" link.
There are 4 annotations for this variant.
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VIP Variant
in CYP2A6
The rs1801272 SNP (g.1799T>A) results in a Leu160His amino acid change, and is part of the CYP2A6*2 allele (see the *2 haplotype page for more details). It has been associated with slow metabolism of letrozole (when grouped with other alleles into the slow metabolizer phenotype) [Article:21975350], and reduced efavirenz metabolism (when grouped with other alleles to give two loss-of-function alleles) [Article:19238117].
Please note; another variant also make up the CYP2A6*2 allele, as defined by the CYP-450 nomenclature committee: http://www.cypalleles.ki.se/cyp2a6.htm. See the CYP2A6 haplotype sheet for more details.
The CYP2A6 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations and haplotypes will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
Publications related to rs1801272 at chr19:41354533: 15
The following icons indicate that data of a certain type is available:
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DG
Dosing Guideline information is available
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DL
Drug Label information is available
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CA
High-level Clinical Annotation is available
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VA
Variant Annotation is available
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VIP
VIP information is available
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PW
Pathway is available
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CYP2A6 genotype and the metabolism and disposition kinetics of nicotine. Clinical pharmacology and therapeutics. 2006. Benowitz Neal L, et al. [Article:17112802@PubMed] |
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Impact of CYP2A6 genotype on pretreatment smoking behaviour and nicotine levels from and usage of nicotine replacement therapy. Molecular psychiatry. 2006. Malaiyandi V, et al. [Article:16402128@PubMed] |
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High prevalence of cytochrome P450 2A6*1A alleles in a black African population of Ghana. European journal of clinical pharmacology. 2005. Gyamfi Maxwell Afari, et al. [Article:15660270@PubMed] |
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CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents. Pharmacogenetics and genomics. 2005. Huang Shuwen, et al. [Article:16272956@PubMed] |
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Three haplotypes associated with CYP2A6 phenotypes in Caucasians. Pharmacogenetics and genomics. 2005. Haberl Michael, et al. [Article:16041240@PubMed] |
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CYP2A6 genetic polymorphisms and correlation with smoking status in Brazilians. The pharmacogenomics journal. 2005. Vasconcelos G M, et al. [Article:15534625@PubMed] |
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Novel human CYP2A6 alleles confound gene deletion analysis. FEBS letters. 2004. Nakajima Miki, et al. [Article:15225612@PubMed] |
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Ethnic variation in CYP2A6 and association of genetically slow nicotine metabolism and smoking in adult Caucasians. Pharmacogenetics. 2004. Schoedel Kerri A, et al. [Article:15475735@PubMed] |
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Relationship between interindividual differences in nicotine metabolism and CYP2A6 genetic polymorphism in humans. Clinical pharmacology and therapeutics. 2001. Nakajima M, et al. [Article:11180041@PubMed] |
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Nicotine metabolism and CYP2A6 allele frequencies in Koreans. Pharmacogenetics. 2001. Kwon J T, et al. [Article:11434509@PubMed] |
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Comparison of cytochrome P450 2A6 polymorphism frequencies in Caucasians and African-Americans using a new one-step PCR-RFLP genotyping method. Toxicology. 2001. Paschke T, et al. [Article:11684323@PubMed] |
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Identification and characterisation of novel polymorphisms in the CYP2A locus: implications for nicotine metabolism. FEBS letters. 1999. Oscarson M, et al. [Article:10544257@PubMed] |
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Genotyping of human cytochrome P450 2A6 (CYP2A6), a nicotine C-oxidase. FEBS letters. 1998. Oscarson M, et al. [Article:9827545@PubMed] |
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A single amino acid substitution (Leu160His) in cytochrome P450 CYP2A6 causes switching from 7-hydroxylation to 3-hydroxylation of coumarin. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association. 1997. Hadidi H, et al. [Article:9409631@PubMed] |
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The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human liver microsomes. Biochemistry. 1990. Yamano S, et al. [Article:2322567@PubMed] |
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