Genotype and allele frequency of CYP2D6 in Tamilian population

Adithan, C; Gérard, Nathalie; Naveen, Amrithraj Theophilus; Koumaravelou, Kailasam; Shashindran, C. H.; Krishnamoorthy, R. V.

doi:10.1007/s00228-003-0657-4

Cited by 15 publications

(5 citation statements)

References 14 publications

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“…When they are compared to the results of Aynacıoğlu et al [21], allele frequencies and homozygous mutations turns out to be similar. This study's results were close to the ones found in previous studies in Asia, Sweden, Denmark, India, Malaysia, China, Japan, Europe [25][26][27][28].…”

Section: Resultssupporting

confidence: 89%

Determination of CYP2D63 and 4 allele frequency among Turkish population

Okat¹

2018

Journal of Surgery and Medicine

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Aim: CYP2D6 takes part in the family of cytochrome P450 enzymes, which is account for the detoxification of multifarious xenobiotics and various drug commonly used in medicine. CYP2D6 is a polymorphic gene encompassing more than 80 known polymorphism within the coding and promoter regions. The mutant CYP2D6*3 allele revealed with the deletion of A2637 found in exon 5 region. The other common mutant allele is CYP2D6*4 and this allele stem from a splice site defect of G1934A can be classified as the most typical mutations. The present study primarily aims to determine the CYP2D6*3 and *4 frequency defects among Turkish population. Methods: Within the framework of the study, two critical alleles of CYP2D6 wild type allele, and CYP2D6*3-CYP2D6*4 mutated alleles are genotyped on eighty healthy volunteers, who are unrelated, by the method of polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). Results: CYP2D6*4 allele frequency, which was identified as the loss of BstNI site, was determined as 13.16% on the examined reference group. Besides, the CYP2D6*4/CYP2D6*4 genotype ratio for the searched reference group was observed in only 2.63%. The heterozygous CYP2D6*3 allele frequency was determined as 1.32% on the examined reference group. Finally, CYP2D6*3/CYP2D6*3 genotype was not encountered in that searched reference group. Conclusion: In the light of those findings, it can be clearly stated that the prevalence of CYP2D6*3 and *4 allelic variants in the Turkish population is the same with the other demographic groups in Turkey.

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Section: Resultssupporting

confidence: 89%

Determination of CYP2D63 and 4 allele frequency among Turkish population

Okat¹

2018

Journal of Surgery and Medicine

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“…The frequencies of CYP2C9*2 in Indian population have found to be between 3–5 % whereas CYP2C9*3 ranges from 4–8 % [ 15 – 17 ]. The allele frequencies of *2 and *3 in Indian population published till date were found to be almost similar to the present study.…”

Section: Discussionmentioning

confidence: 99%

Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy

et al. 2016

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BackgroundPhenytoin, mainly metabolized by cytochrome P450 enzyme system, has a narrow therapeutic index and may have adverse effects due to inter-individual variation in the dose requirement and genetic polymorphisms. This cross-sectional study was done to study the prevalence of cytochrome P450 CYP2C9 polymorphisms in Indian epileptic children and to see the effect of polymorphisms on serum levels in epileptic children on phenytoin monotherapy.MethodsWe studied 89 epileptic children of North Indian population, randomly selected, to see the genotypic and allelic frequency of CYP2C9 and its association with drug levels on phenytoin monotherapy. Analysis was done using STATA 9 Software. The results were analyzed as prevalence at 95 % C.I. (Confidence Interval). The difference in mean phenytoin serum levels between wild and mutant alleles was tested using Student`s T test for independent samples. P value less than 0.05 was considered statistically significant.ResultsCYP2C9*1, *2 & *3 allelic frequencies were 85.4, 4.5 and 10.1 % respectively. CYP2C9*3 allelic group showed significantly higher serum phenytoin levels compared to the wild variants (P = 0.009). There was no statistically significant difference in the dose received (P = 0.12) and side effects of CYP2C9*2 and CYP2C9*3 genotypes (P = 0.442 and 0.597 respectively) when compared with wild variant.ConclusionCYP2C9*3 is more common than *2 in the present study. All the polymorphisms demonstrated in our study were heterozygous with no homozygosity. Serum phenytoin levels are higher in polymorphic groups (*3) which suggest their poor metabolizing nature. Genotyping may help to avoid toxicity and concentration-dependent adverse effects.Electronic supplementary materialThe online version of this article (doi:10.1186/s12887-016-0603-0) contains supplementary material, which is available to authorized users.

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“…Except for our earlier study in Tamilians, 6) and a study done on North Indians at Mumbai on CYP2D6*4 allele, 12) there are no data available yet for CYP2D6 allele distribution in Indian populations.…”

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confidence: 84%

CYP2D6 Genetic Polymorphism in South Indian Populations

Naveen

Chandrasekaran

Soya

et al. 2006

Biological & Pharmaceutical Bulletin

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The cytochrome P450 system is involved in the metabolism of both endogenous and exogenous molecules.1) A large number of commonly prescribed drugs like antidepressants and cardiovascular drugs are metabolized by the well-studied cytochrome P450 2D6 (CYP2D6) enzyme.1) The gene exhibits polymorphism and frequencies of the alleles in various populations vary widely.2,3) Depending on the combinations of CYP2D6 alleles present, individuals may be classified as poor metabolizers (PM), intermediate metabolizers (IM), extensive metabolizers (EM) and ultra-extensive metabolizers (UM) of CYP2D6 substrates. PMs carry enzyme-inactivating polymorphisms, resulting in high concentrations of parent drug in plasma. In the case of UM, gene duplications may lead to increased enzyme activity, resulting in reduced parent drug concentration in blood stream. Dosage recommendations, to avoid both side effects and therapeutic failure therefore depend on CYP2D6 genotype for CYP2D6 substrates. 4,5)

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Genotype and allele frequency of CYP2D6 in Tamilian population

Abstract: The 10 allele is the most common mutant allele in Tamilians. The CYP2D64 and CYP2D6*5 alleles are distributed in a significantly different way in the Tamil population relative to Oriental populations.

Cited by 15 publications

References 14 publications

Determination of CYP2D63 and 4 allele frequency among Turkish population

Determination of CYP2D63 and 4 allele frequency among Turkish population

Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy

CYP2D6 Genetic Polymorphism in South Indian Populations

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Genotype and allele frequency of CYP2D6 in Tamilian population

Abstract: The *10 allele is the most common mutant allele in Tamilians. The CYP2D6*4 and CYP2D6*5 alleles are distributed in a significantly different way in the Tamil population relative to Oriental populations.

Cited by 15 publications

References 14 publications

Determination of CYP2D6*3 and *4 allele frequency among Turkish population

Determination of CYP2D6*3 and *4 allele frequency among Turkish population

Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy

CYP2D6 Genetic Polymorphism in South Indian Populations

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Abstract: The 10 allele is the most common mutant allele in Tamilians. The CYP2D64 and CYP2D6*5 alleles are distributed in a significantly different way in the Tamil population relative to Oriental populations.

Determination of CYP2D63 and 4 allele frequency among Turkish population

Determination of CYP2D63 and 4 allele frequency among Turkish population