Page 248 - Personalised medicine of fluoropyrimidines using DPYD pharmacogenetics Carin Lunenburg
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Chapter 9
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Supplemental Table 2.Genotyping results for CYP2D6
Shown are the results on CYP2D6 from Erasmus MC. Not all variants from the AmpliChip and INFINITY/Luminex were determined using a second independent genotyping platform.
Gene
Technique
# of assays
# of variants WTa HET
VAR MUL-VAR
% WT %HET %VAR+MUL-VAR MAF
CYP2D6 CYP2D6 TOTAL
AmpliChip INFINITY/Luminex
652
2127
48205
25 2500 255 15 4530 852
520 111 1744 303
74% 8% 19% 11% 61% 11% 28% 17%
a for CYP2D6 wildtypes, heterozygous and homozygous carriers are classified differently. For example, a *1/*2 CYP2D6 carrier has the *2 variant, but is classified as wildtype. In this table we show wild-types, heterozygous carriers (1 SNP), variant carriers (2 SNPs) and multi-variant carriers (3 SNPs or more).
Abbreviations: # of assays: number of assays executed over time; # of variants: number of variants per assay that were confirmed with a second independent genotyping platform; WT: wildtype; HET: heterozygous carrier; VAR: variant carriers; MUL-VAR: multi-variant carriers; MAF: minor allele frequency.
