biostudies-literature00400Unknown13Chamnanphon M<h4>Purpose</h4>Pharmacogenes have an influence on biotransformation pathway and clinical outcome of primaquine and chloroquine which are often prescribed to treat <i>Plasmodium vivax</i> infection. Genetic variation may impact enzyme activity and/or transporter function and thereby contribute to relapse. The aim of the study was to assess allele, genotype frequencies and the association between pharmacogenes variation and primaquine response in Thai patients infected with <i>Plasmodium vivax</i>.<h4>Patients and methods</h4>Fifty-one patients were genotyped for 74 variants in 18 genes by Sequenom MassARRAY^® and Taqman^® SNP Real-Time PCR.<h4>Results</h4>SNP frequencies were not significantly different between relapse (n=4) and non-relapse (n=47) patients. However, the <i>CYP2C19</i> c.681G>A, the frequency of the A-allele that defines the non-functional <i>CYP2C19*2</i> haplotype was significantly higher compared to the G-allele (OR=5.14, <i>p</i>=0.021). Patients heterozygous for <i>ABCG2</i> c.421C>A had a higher odds ratio (OR=8.75, <i>p</i>=0.071) and the frequency of the G-allele of <i>UGT2B7 c</i>.372G>A was higher compared to the A-allele (OR=3.75, <i>p</i>=0.081). <i>CYP2C19, ABCG2</i> and <i>UGT2B7</i> emerged as potential high priority genes.<h4>Conclusion</h4>Decreased activity of CYP2C19, ABCG2 and UGT2B7 in combination with CYP2D6 intermediate or poor metabolizer status may expose patients to a higher risk of <i>Plasmodium vivax</i> relapse. Further investigations are warranted to substantiate these findings.Pharmacogenomics and personalized medicine1-12https://www.ebi.ac.uk/biostudies/studies/S-EPMC6966953biostudies-literaturePharmacogene Variation in Thai <i>Plasmodium vivax</i> Relapse Patients Treated with a Combination of Primaquine and Chloroquine.PMC6966953Puangpetch APasomsub EChamnanphon MSukasem CChantratita WGaedigk ALongley RJChariyavilaskul PSattabongkot J40falsePharmacogene Variation in Thai <i>Plasmodium vivax</i> Relapse Patients Treated with a Combination of Primaquine and Chloroquine.<h4>Purpose</h4>Pharmacogenes have an influence on biotransformation pathway and clinical outcome of primaquine and chloroquine which are often prescribed to treat <i>Plasmodium vivax</i> infection. Genetic variation may impact enzyme activity and/or transporter function and thereby contribute to relapse. The aim of the study was to assess allele, genotype frequencies and the association between pharmacogenes variation and primaquine response in Thai patients infected with <i>Plasmodium vivax</i>.<h4>Patients and methods</h4>Fifty-one patients were genotyped for 74 variants in 18 genes by Sequenom MassARRAY^® and Taqman^® SNP Real-Time PCR.<h4>Results</h4>SNP frequencies were not significantly different between relapse (n=4) and non-relapse (n=47) patients. However, the <i>CYP2C19</i> c.681G>A, the frequency of the A-allele that defines the non-functional <i>CYP2C19*2</i> haplotype was significantly higher compared to the G-allele (OR=5.14, <i>p</i>=0.021). Patients heterozygous for <i>ABCG2</i> c.421C>A had a higher odds ratio (OR=8.75, <i>p</i>=0.071) and the frequency of the G-allele of <i>UGT2B7 c</i>.372G>A was higher compared to the A-allele (OR=3.75, <i>p</i>=0.081). <i>CYP2C19, ABCG2</i> and <i>UGT2B7</i> emerged as potential high priority genes.<h4>Conclusion</h4>Decreased activity of CYP2C19, ABCG2 and UGT2B7 in combination with CYP2D6 intermediate or poor metabolizer status may expose patients to a higher risk of <i>Plasmodium vivax</i> relapse. Further investigations are warranted to substantiate these findings.2020-01-01T00:00:00Z20202024-10-18T01:06:48.352Z2021-02-20T07:29:47ZS-EPMC69669533202138310.2147/PGPM.S201007