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 3 The association between CYP2D6 genotypes and the relapse of vivax malaria

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

Alleles Total
No (n1 = 238, F/%)
Case groups x2 P
SR group
No. (n1 = 88, F/%)
NR group
No. (n1 = 150, F/%)
a. Alleles
*1 47 (19.7) 10 (11.4) 37 (24.7) 6.193 0.013b (S)
*2 17 (7.1) 14 (15.9) 3 (2.0) 16.177 0.000b (S)
*4 3 (1.3) 3 (3.4) 0 2.802 0.094b (NS)
*10 108 (45.4) 34 (38.6) 74 (49.3) 2.560 0.110b (NS)
*39 28 (11.8) 15 (17.0) 13 (8.7) 3.751 0.053b (NS)
*sa 20 (8.4) 5 (5.7) 15 (10.0) 1.344 0.246b (NS)
Othera 15 (6.3) 7 (8.0) 8 (5.3) 1.766 0.184b (NS)
Genotypes Case groups ORc 95%CI P
SR group
No. (n2 = 44, F/%)
NR group
No. (n2 = 75, F/%)
Upper limit Low limit
b. Genotypes
*1/*1 1 (2.3) 11 (14.7) 0.135 0.017 1.087 0.064b (NS)
*2/*2 4 (9.1) 1 (1.3) 7.400 0.800 68.463 0.118b (NS)
*1/*2 4 (9.1) 1 (1.3) 7.400 0.800 68.463 0.118b (NS)
*1/*10 2 (4.5) 12 (16.0) 0.250 0.050 1.174 0.115b (NS)
*10/*10 12 (27.3) 24 (32.0) 0.797 0.350 1.873 0.588b (NS)
*10/*sa 1 (2.3) 1 (1.3) 1.721 0.105 28.220 1.000b (NS)
*10/*39 5 (11.4) 3 (4.0) 3.077 0.698 13.563 0.242b (NS)
*39/*39 2 (4.5) 1 (1.3) 3.524 0.310 40.032 0.636b (NS)
*39/*sa 2 (4.5) 7 (9.3) 0.463 0.092 2.332 0.552b (NS)
  1. n1 number of chromosomes, n2 number of cases, F Frequency
  2. Other: *m, *n, *o, *p, *q,*r,*t, *u, *v, *w and *x; a They could not meet the allele inclusion criteria provided by the Allele Nomenclature Committee [32]; bChi-square test; NS: not significant (P > 0.05); cThe OR value of genotypes were calculated by comparing to the relapse rate of P. vivax; S: significant (P < 0.05); NS: not significant (P > 0.05)