Title |
Discovery of the nonfunctional CYP2D6*31 allele in Spanish, Puerto Rican, and US Hispanic populations
|
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Published in |
European Journal of Clinical Pharmacology, May 2010
|
DOI | 10.1007/s00228-010-0831-4 |
Pubmed ID | |
Authors |
Andrea Gaedigk, Maria Isidoro-García, Robin E. Pearce, Santiago Sánchez, Virginia García-Solaesa, Carolina Lorenzo-Romo, Gloria Gonzalez-Tejera, Susan Corey |
Abstract |
CYP2D6 31 (4042G>A, R(440)H) is an allelic variant of the highly polymorphic cytochrome P450 2D6 enzyme that has been associated with reduced functional activity. The US Food and Drug Administration (FDA)-cleared AmpliChip CYP450 test detects the 4042G>A single nucleotide polymorphism (SNP) but an allele assignment could not be made in two Spanish and two Puerto Rican individuals heterozygous for 4042G>A, resulting in no-calls. We aimed to resolve the CYP2D6 31 no-calls, determine the allele haplotype, and corroborate that CYP2D6 31 is associated with a poor metabolizer phenotype. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Thailand | 1 | 3% |
South Africa | 1 | 3% |
Unknown | 27 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 6 | 21% |
Researcher | 6 | 21% |
Student > Bachelor | 4 | 14% |
Student > Master | 4 | 14% |
Student > Doctoral Student | 2 | 7% |
Other | 5 | 17% |
Unknown | 2 | 7% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 8 | 28% |
Agricultural and Biological Sciences | 8 | 28% |
Medicine and Dentistry | 4 | 14% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 7% |
Physics and Astronomy | 1 | 3% |
Other | 1 | 3% |
Unknown | 5 | 17% |