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Table 2 Frequencies of genotypes of rs460089, rs2631365 and rs13180043, association of genotypes with EMR and BCR-ABL1 HT6 and frequencies of haplotypes in the European population

From: Genotypes of SLC22A4 and SLC22A5 regulatory loci are predictive of the response of chronic myeloid leukemia patients to imatinib treatment

a.

Response to imatinib at 3 months

rs460089 (G/C)

rs2631365 (T/C)

rs13180043 (C/T)

GG

GC

CC

P value Fept

TT

TC

CC

P value Fept

CC

CT

TT

P value Fept

EMR (n = 86)

42

33

11

0.470

31

45

10

0.671

77

9

0

0.220

non-EMR (n = 31)

19

8

4

12

14

5

25

6

0

b.

 

rs460089 (G/C)a

rs2631365 (T/C)a

rs13180043 (C/T) a

GG

GC

median/P valueMMT

TT

TC

median/P valueMMT

CC

CT

median/P value

MMT

HT6 median of days (number of cases)

33.10 (61)

21.25 (43)

27.00

p <0.00001

32.29 (44)

25.41 (54)

27.04

p = 0.223

26.46 (100)

28.34 (17)

27.00

p = 0.177

c.

 

rs2631365-TC

rs13180043-CC

   

Optimal resp.

Non-optimal resp.

P value Fept

Optimal resp.

Non-optimal resp.

P value Fept

   

rs460089-GG

6

15

0.00006

26

33

0.0023

   

rs460089-GC

27

8

30

8

   

rs460089-CC

4

0

9

6

   

d.

 

rs460089-GG_ rs2631365-TC

(number)

rs460089-GC_ rs2631365_TC

(number)

median value/P value MMT

rs460089-GG_ rs13180043-CC

(number)

rs460089-GC_ rs13180043-CC

(number)

median value/P value MMT

   

HT6 median of days (number of cases)

36.34

(18)

21.48

(34)

25.41/0.004

33.150

(50)

21.251

(37)

27.100/0.002

   

e.

Haplotype

rs460089_rs270606_rs156322_rs272872_rs272868_rs2631362_rs274570_rs183898

European population

        

G_G_T_G_G_A_C_C

0.68

        

C_A_C_A_C_G_T_G

0.32

        

G_A_C_A_C_G_T_G

0.003

        

C_G_T_G_G_A_C_C

0.001

        

Haplotype

rs2631365_rs272842_rs272889_rs2631363_rs274567_rs274559

         

T_G_G_A_C_A

0.58

        

C_A_A_G_T_G

0.42

        

C_A_G_A_C_G

0.004

        

C_A_A_A_C_A

0.001

        

C_G_G_A_C_A

0.001

        
  1. a. Differences in genotype frequencies of rs460089, rs2631365 and rs13180043 between patients with EMR and non-EMR to imatinib. b. The associations between genotypes and BCR-ABL1 halving time at 6 months. c. Differences between the rs460089 genotype frequency in patients with an optimal response and non-optimal response to imatinib at 12 months in rs2631365-TC carriers and in rs13180043-CC carriers. d. Differences in the BCR-ABL1 halving time between the genotypes clusters. e. Haplotypes frequencies in the European population. Fept Fischer exact probability test, MMT Mood’s median test
  2. aHomozygous status of minor alleles was not considered due to low number of cases