C mutation was most frequently detected in both suspected relapsed group (SR) and non-relapsed group (NR), reaching 85.2% (75/88) and 76.0% (114/150), respectively. The c.886C > T mutation was most closely related to the recurrence of vivax malaria (OR = 2.167, 95% CI 1.104–4.252, P < 0.05). Among the 23 haplotypes (Hap_1 ~ Hap_23), Hap_3 was non-mutant, and the sequence structure of Hap_9 was the most complicated one. Five star alleles, including *1, *2, *4, *10 and *39, were confirmed by comparison, and CYP2D6*10 allele accounted for the largest percentage (45.4%, 108/238). The frequency of CYP2D6*2 allele in the SR group was significantly higher than that in the NR group (Χ2 = 16.177, P < 0.05). Of the defined 24 genotypes, 8 genotypes, including *4/*4, *4/*o, *2/*39, *39/*m, *39/*x, *1/*r, *1/*n, and *v/*10, were detected only in the SR group. Conclusion Mutation of CYP2D6*10 allele accounts for the highest proportion of vivax malaria cases in Yunnan Province. The mutations of c. 886C > T and CYP2D6*2 allele, which correspond to impaired PQ metabolizer phenotype, are most closely related to the relapse of vivax malaria. In addition, the genotype *4/*4 with null CYP2D6 enzyme function was only detected in the SR group. These results reveal the risk of defected CYP2D6 enzyme activity that diminishes the therapeutic effect of primaquine on vivax malaria."/>
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Table 2 Polymorphisms of CDS mutation in CYP2D6 gene between different vivax malaria cases

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

SR group NR group ORc 95%CI P SNP ID in Genbank
Loci Codon changea Amino acid change No
(n = 88, %b1)
Loci Codon changea Amino acid change No. (n = 150, %b2) Upper limit Low limit
c.31 GTG > ATG V11M 1 (0.7) rs769258
c.100 CCA > TCA P34S 47 (53.4) c.100 CCA > TCA P34S 95 (63.3) 0.664 0.389 1.133 0.132d (NS) rs1065852
c.271 CTG > ATG L91M 4 (4.5) c.271 CTG > TTG L91L 2 (1.3) 3.524 0.632 19.647 0.272d (NS) rs28371703
c.281 CAC > CGC H94R 4 (4.5) rs28371704
c.294 ACC > ACG T98T 4 (4.5) c.294 ACC > ACG T98T 1 (0.7) 7.095 0.780 64.521 0.122d (NS) rs28371705
c.297 GCC > GCT A99A 1 (1.4) rs200269944
c.336 TTC > TTT F112F 42 (47.7) c.336 TTC > TTT F112F 81 (54.0) 0.778 0.459 1.318 0.350d (NS) rs1081003
c.408 GTG > GTC V136V 75 (85.2) c.408 GTG > GTC V136V 114 (76.0) 1.822 0.907 3.661 0.089d (NS) rs1058164
c.505 GGT > AGT G169S 2 (2.3) rs5030865
c.801 CCC > CCA P267P 2 (1.3) rs28371718
c.886 CGC > TGC R296C 22 (23.9) c.886 CGC > TGC R296C 20 (13.3) 2.167 1.104 4.252 0.023d (S) rs16947
c.1457 AGC > ACC S486T 75 (85.2) c.1457 AGC > ACC S486T 108 (72.0) 1.416 0.819 2.447 0.212d (NS) rs1135840