| |
Gene
|
SNP
|
Alleles, Major > minor
|
MTXintolerant1 Allel count
|
MTXtolerant Allel count
|
OR (95% CI)
|
p
|
Chr.
|
Genomic position
|
Consequence
|
|---|
|
Hepatic
|
ABCC2
|
rs2273697
|
G > A
|
36
|
22
|
1.05 (0.61–1.80)
|
0.87
|
10
|
99,804,058
|
Missense
|
|
Efflux
|
ABCC2
|
rs37400662
|
G > A
|
58
|
35
|
1.15 (0.64–2.07)
|
0.64
|
10
|
99,844,450
|
Missense
|
|
Transporter
|
ABCC2
|
rs717620
|
G > A
|
29
|
23
|
0.77 (0.42–1.41)
|
0.40
|
10
|
99,782,821
|
5’UTR variant
|
|
ABCB1
|
rs2032582
|
G > T
|
61
|
34
|
1.28 (0.73–2.24)
|
0.39
|
7
|
87,531,302
|
Missense
|
|
G > A
|
3
|
2
|
0.96 (0.15–5.96)
|
0.96
|
|
ABCB1
|
rs1045642
|
T > C
|
62
|
42
|
0.88 (0.49–1.57)
|
0.67
|
7
|
87,509,329
|
Synonymous
|
|
Hepatic
|
SLCO1B1
|
rs4149056
|
T > C
|
25
|
13
|
1.28 (0.62–2.66)
|
0.51
|
12
|
21,178,615
|
Missense
|
|
Influx
|
SLCO1B1
|
rs4149081
|
G > A
|
27
|
15
|
1.19 (0.59–2.43)
|
0.62
|
12
|
21,225,087
|
Intron variant
|
|
Transporter
|
SLCO1B3
|
rs2117032
|
T > C
|
52
|
34
|
0.97 (0.57–1.64)
|
0.90
|
12
|
20,921,188
|
Down stream 3’UTR
|
|
SLC19A1
|
rs10512662
|
G > A
|
64
|
38
|
1.20 (0.67–2.13)
|
0.54
|
21
|
45,537,880
|
Missense
|
|
Nausea
|
HTR3A
|
rs1062613
|
C > T
|
20
|
20
|
0.55 (0.27–1.14)
|
0.11
|
11
|
113,975,284
|
5’UTR variant
|
|
Receptor
|
HTR3A
|
rs1985242
|
T > A
|
36
|
32
|
0.58 (0.31–1.09)
|
0.09
|
11
|
113,977,551
|
5’UTR variant
|
|
HTR3A
|
rs1176713
|
T > C
|
27
|
22
|
0.74 (0.40–1.39)
|
0.35
|
11
|
113,989,703
|
Synonymous
|
|
HTR3B
|
rs1176744
|
T > G
|
52
|
27
|
1.36 (0.78–2.54)
|
0.26
|
11
|
113,932,306
|
Missense
|
|
MTHFR
|
MTHFR
|
rs18011312
|
A > C
|
44
|
34
|
0.77 (0.44–1.33)
|
0.35
|
1
|
11,794,419
|
Missense
|
|
Enzyme
|
MTHFR
|
rs1801133
|
C > T
|
49
|
21
|
1.77 (0.96–3.28)
|
0.07
|
1
|
11,796,321
|
Missense
|
- The additive effect of the minor allele on parent-assessed MTX-induced nausea – the methotrexate intolerance severity score. Listed for every single nucleotide polymorphism (SNP) are the respective gene, the alleles, the relevant chromosome (Chr.), the genomic position, and the consequence of the SNP
- N = 118, due to missing SNP data for two patients and MISS data for one
- OR Odds Ratio
- 1The MTXintolerant subgroup: children with a total score of the Methotrexate Intolerance Severity Score (MISS) ≥6 and at least 1 point in the anticipatory and/or associative and/or behavioral symptoms (n = 72). Otherwise categorised as MTXtolerant (n = 46)
- 2SNP variant not available for one child
