Page 247 - Personalised medicine of fluoropyrimidines using DPYD pharmacogenetics Carin Lunenburg

Supplement
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Supplemental Table 1. Genotyping results
Shown are the results per variant distributed on carrier status and the calculated minor allele frequencies. In total, 89,842 variants were reviewed in this study, for which a second independent genotyping platform was used (16,932 LUMC + 24,705 Erasmus MC + 48,205 CYP2D6 in Supplemental Table 2).
Variant
Gene Location CYP2C19 c.−806C>T CYP2C19 c.681G>A
Results LUMC
WT HET HM
170 74 15
120 54 6 18% “
70 23 1 13% “
83 11 0 6% “
52 2 0 2% “
82 324 1087 84% 15 64
HM MAF
HM % WT
%HET %HM
MAF
CYP2C9
CYP2C9
CYP3A4
CYP3A5
CYP3A5
DPYD
DPYD
DPYD
DPYD
SLCO1B1 c.521T>C
1448 34 1 3160 56 0 3112 40 3080 36 0 2805 132 1 1350 27110 283211 247214
1% “ 1% “ 0% “ 1% “ 2% “ 14% “ 0% “ 4% “ 5% 35% “
337 5 2348 45 2426 2 2401 24 2361 64 120 85 2021 21 1872 158 1836 191 128 118
98%
98% 100% 0%
TPMT TPMT TPMT VKORC1
c.238G>C
*2
*3A, *3B *3A, *3C *2 4
2 1% 6 23% 0 1% “ 11 4% 15 5% 53 37%
99% 96% 58% 99% 92% 90% 43%
1% 4% 39% 1% 8% 9% 40%
ABCB1 ABCB1 ABCB1 ABCB1 TOTAL
rs1128503 rs2032582 rs3213619 rs1045642
0 2
0 2
4 2
1 1 15005810 1117
50% “ 50% “ 17% “ 25% “
6 12 5 48% “ 6 12 5 48% “
20% 48% “ 20% 48% “
c.430C>T c.42614A>C c.522-191C>T c.6986A>G 14690G>A c.1905+1G>A c.1679T>G c.2846A>T c.1236G>A
rs12248560 rs4244285 rs1799853 rs1057910 rs35599367 rs776746 rs10264272 rs3918290 rs55886062 rs67376798 rs56038477 rs4149056 rs1800462 rs1800460 rs1142345 rs9934438
*17 *2 *2 *3 *22 *3 *6 *2A *13
21% “ 16% 11% “ 6% “ 5% “
c.460G>A
c.719A>G
c.1173C > T/ -1639G>A c.1236C>T c.2677G>T>A c.-129T>C c.-3435T>C
5 1
Rs number
*
MAF
WT HET
0 0 0 0
6 14 2 41% “ 21755 2408 542
20% “
1223 618 1399 474 990 240 1105 143 1155 118
90 21% “ 58 15% 22 11% “ 4 6% “ 3 5% “ 263 86% 0 1% “ 1 1% “ 0 0% “ 2 1%
105 64% 64 72% 23 79% 4 88% 3 91% 1350 5%
32% 25% 20% 11% 9% 21% 2% 2%
5%
3%
2%
0%
0%
74% 84% 0% 1% “ 0% 1% “ 0% 0% “ 0% 1% 0% 2% “ 3% 22% 0% 0% “ 1% 4% 1% 5% 17% 37%
Abbreviations: WT: wildtype; HET: heterozygous carrier; HM: homozygous carrier; MAF: minor allele frequency; *: nomenclature; “: indicates Hardy Weinberg Equilibrium.
Results Erasmus MC
Results Total WT HET 1393 692 1519 528 1060 263 1188 154 1207 120
97 388 1785 39 1 5508 101 1 5538 6 0 5481 60 2 5166 196 3 133 90 6 2292 22 0 2155 179 12 2083 212 19 132 123 54
6 14 5 24% 6 14 5 24% 4 2 0 67% 7 15 2 29% 36760 3218 1659 88%
56%
56%
33% 0% 17% “ 63% 8% 40% “ 8% 4% 8%