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. 2021 Aug 25;12:693453. doi: 10.3389/fphar.2021.693453

TABLE 2.

Pharmacogenes with the associated challenges that render them difficult to genotype.

Gene Challenge(s) Reference
CYP2D6 –Structural variants and gene rearrangements Taylor et al. (2020)
–Pseudogenes PharmVar structural variations CYP2D6
–Copy Number Variations
–Presence of novel variants
–Highly polymorphic region
–Substrate-specific effects of some alleles
UGT1A1 –Rare population-specific variants Barbarino et al. (2014)
–Variants in non-coding parts of the gene Marques and Ikediobi, 2010
–Independent haplotypes with less linkage disequilibrium
VKORC1 –Important variants in non-coding parts of the gene Saminathan et al. (2010)
Owen et al., 2010
HLA –Rare population-specific variants Illing et al. (2017)
–Highly polymorphic regions Klasberg et al., 2019
SLC6A4 –Rare population-specific variants Lam (2013)