The association of CYP2D6 gene polymorphisms in the full-length coding region with higher recurrence rate of vivax malaria in Yunnan Province, China

Abstract Background Accumulating evidence suggest that compromised CYP2D6 enzyme activity caused by gene mutation could contribute to primaquine failure for the radical cure of vivax malaria. The current study aims preliminarily reveal association between recurrence malaria in Yunnan Province and analysing polymorphisms entire coding region human gene. Methods Blood samples were collected from patients with malaria, who received "chloroquine 8-day course therapy" Province. suspected relapsed cases determined epidemiological approaches sequence alignment. PCR was conducted amplify genome, amplified products then sequenced compare non-mutation “reference” sequence, so as ensure correct sequencing results determine 9 exon regions. Subsequently, DNA sequences exons spliced into (CDS), which, default, is known maternal CDS. paternal CDS obtained adjusting bases according peaks. loci, haplotypes (star alleles), genotypes odds ratios (OR) all CDSs analysed. Results Of the119 chains total 1491 bp length, 12 sites 238 detected. c.408G > C most frequently detected both group (SR) non-relapsed (NR), reaching 85.2% (75/88) 76.0% (114/150), respectively. c.886C T closely related (OR = 2.167, 95% CI 1.104–4.252, P < 0.05). Among 23 (Hap_1 ~ Hap_23), Hap_3 non-mutant, structure Hap_9 complicated one. Five star alleles, including *1, *2, *4, *10 *39, confirmed comparison, CYP2D6*10 allele accounted largest percentage (45.4%, 108/238). frequency CYP2D6*2 SR significantly higher than NR ( ? 2 16.177, defined 24 genotypes, 8 *4/*4, *4/*o, *2/*39, *39/*m, *39/*x, *1/*r, *1/*n, *v/*10, only group. Conclusion Mutation accounts highest proportion mutations c. 886C allele, which correspond impaired PQ metabolizer phenotype, are relapse In addition, genotype *4/*4 null function These risk defected diminishes therapeutic effect on