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. 2024 Jul 2:17:95-105.
doi: 10.2147/TACG.S463965. eCollection 2024.

The Diversity of CYP2C19 Polymorphisms in the Thai Population: Implications for Precision Medicine

Vorthunju Nakhonsri  1 , Shobana John  2   3 , Hathaichanok Panumasmontol  4   5 , Manassanan Jantorn  4   5 , Pongpipat Chanthot  4   5 , Nuntachai Hanpramukkun  6 , Supaporn Meelarp  7 , Chonlaphat Sukasem  2   3 , Sissades Tongsima  1 , Sukhontha Hasatsri  4 , Abhisit Prawang  8 , Thanawat Thaingtamtanha  9   10 , Natchaya Vanwong  11   12 , Chalirmporn Atasilp  13 , Monpat Chamnanphon  14 , Pimonpan Jinda  2   3 , Patompong Satapornpong  4   5
Affiliations

The Diversity of CYP2C19 Polymorphisms in the Thai Population: Implications for Precision Medicine

Vorthunju Nakhonsri et al. Appl Clin Genet. .

Abstract

Introduction: CYP2C19 plays a major role in the metabolism of various drugs. The most common genetic variants were the CYP2C19*2 and *3 alleles (rs4244285 and rs4986893, non-functional variants). In previous studies, we found that genetic polymorphisms in CYP2C19 variants influenced the active metabolites of clopidogrel and caused major adverse cardiovascular and cerebrovascular effects. However, the distribution of CYP2C19 varies among ethnic groups and according to adverse drug reactions. This study aimed to investigate the frequency of CYP2C19 genetic polymorphisms in the Thai population and analyze the differences in the frequency of CYP2C19 genetic polymorphisms between Thai and other populations.

Methods: This study enrolled 211 unrelated healthy Thai individuals in total. We performed a real-time polymerase chain reaction to genotype CYP2C19*2 (681G > A) and CYP2C19*3 (636G > A).

Results: In the Thai population, the CYP2C19*1 allele was the most prevalent at 70.14%, while the CYP2C19*2 and *3 alleles were found at frequencies of 25.36% and 4.50%, respectively. Conversely, the CYP2C19*3 allele was not detected in Caucasian, Hispanic, African, Italian, Macedonian, Tanzanian, or North Indian populations. The phenotypic profile of this gene revealed that the frequency of intermediate metabolizers (IMs) is nearly equal to that of extensive metabolizers (EMs), at 42.65% and 48.82% respectively, with genotypes *1/*2 (36.02%) and *1/*3 (6.63%). Likewise, poor metabolizers (PMs) with genotypes *2/*2 (6.16%), *2/*3 (2.37%), and *3/*3 (<1%) are more prevalent in our population as well.

Conclusion: The distribution of CYP2C19 genotype and phenotype influenced by non-functional alleles has potential as a pharmacogenomics biomarker for precision medicine and is dependent on an ethnic-specific genetic variation database.

Keywords: CYP2C19 gene; Thai population; genetic diversity; interethnic differences.

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Conflict of interest statement

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest or financial conflict with the subject matter or materials discussed in this manuscript.

Figures

Figure 1
Figure 1
Forest plot displaying the odds ratios for the frequencies of CYP2C19*2 (A) and CYP2C19*3 (B) alleles across multiple populations in comparison to the Thai population allele frequency.
Figure 2
Figure 2
Forest plot displaying the odds ratios for the frequencies of CYP2C19 intermediate metabolizers (IMs; *1/2 + *1/3) diplotypes (A) and CYP2C19 poor metabolizers (PMs; *2/*2 + *2/*3 + *3/*3) diplotypes (B) across multiple populations in comparison to the Thai population diplotype frequency.
Figure 3
Figure 3
Distribution of CYP2C19 polymorphisms in Thais and ethnic groups.
See this image and copyright information in PMC

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