Differences in genotype and allele frequency distributions of polymorphic drug metabolizing enzymes CYP2C19 and CYP2D6 in mainland Chinese Mongolian, Hui and Han populations

Summary What is known and Objective:  Cytochrome P450 2C19 (CYP2C19) and CYP2D6 are important xenobiotic metabolic enzymes and both show considerable genetic variability between Orientals and Caucasians. There are known marked heterogeneity in susceptibility to various cancers and hypertension among...

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Bibliographic Details
Published in:Journal of clinical pharmacy and therapeutics 2012-06, Vol.37 (3), p.364-369
Main Authors: Yin, S.-J., Ni, Y.-B., Wang, S.-M., Wang, X., Lou, Y.-Q., Zhang, G.-L.
Format: Article
Language:English
Subjects:
Alleles
Amplified Fragment Length Polymorphism Analysis
Aryl Hydrocarbon Hydroxylases - genetics
Aryl Hydrocarbon Hydroxylases - metabolism
Asian Continental Ancestry Group - genetics
Biological and medical sciences
Biotransformation
China
CYP2C19
CYP2D6
Cytochrome P-450 CYP2C19
Cytochrome P-450 CYP2D6 - genetics
Cytochrome P-450 CYP2D6 - metabolism
Exons
Gene Frequency
Genetic Association Studies
genetic polymorphism
Han
Hui
Humans
mainland Chinese Mongolian
Medical sciences
Pharmacology. Drug treatments
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
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Summary:Summary What is known and Objective:  Cytochrome P450 2C19 (CYP2C19) and CYP2D6 are important xenobiotic metabolic enzymes and both show considerable genetic variability between Orientals and Caucasians. There are known marked heterogeneity in susceptibility to various cancers and hypertension among Chinese Mongolian, Hui and Han ethnic groups, but the molecular mechanisms are unknown. Our objective was to investigate the patterns of distribution of CYP2C19 and CYP2D6 polymorphisms among healthy Chinese subjects to determine whether any observed inter‐ethnic variability might be worth further investigation as possible contributors to the known differences in disease prevalence. Methods:  Blood samples were collected from 454 unrelated Chinese healthy subjects (214 Han, 111 Hui, 129 Mongolian) for genotyping analysis. The single nucleotide polymorphisms (SNPs) CYP2C19*2 (681G>A in exon 5), CYP2C19*3 (636G>A in exon 4) and CYP2D6*10 (188C>T in exon 1) were determined by the polymerase chain reaction–restriction fragment length polymorphism (PCR‐RFLP) method. Results and Discussion:  Significantly higher frequencies of the CYP2C19 poor metabolic genotypes were observed in Chinese Han (18·7%), Chinese Hui (25·0%) and Chinese Mongolian (10·9%) subjects than has been reported for Caucasians (1·7–3·0%, P 
ISSN:0269-4727
1365-2710
DOI:10.1111/j.1365-2710.2011.01298.x