Table 1.

Genetic variants in genes within the isoniazid pharmacokinetic pathway associated with anti-TB treatment drug-induced liver injury (ATT-DILI).

Gene	Genetic Variant	Pharmacogenetic Association	Referencesa
NAT2	Slow acetylator genotype	NAT2 slow acetylator genotype is associated with an increased risk of ATT-DILI.	[35, 40, 62–81, 91].
		NAT2 slow acetylator genotype is not associated with an increased risk of ATT-DILI.	[82–86].
GSTM1	Nullb genotype	GSTM1 null genotype is associated with an increased risk of ATT-DILI.	[37, 102].
		GSTM1 null genotype is not associated with an increased risk of ATT-DILI.	[35, 63, 65, 74, 92, 93, 104–106].
GSTT1	Nullb genotype	GSTT1 null genotype is associated with an increased risk of ATT-DILI.	[106].
		GSTT1 null genotype is not associated with an increased risk of ATT-DILI.	[35, 37, 63, 65, 74, 93, 102, 104, 105].
CYP2E1	*1A, c1, D c1 is defined as the wildtype allele at rs2031920 (C) and rs3813867 (G), and D is defined as the presence of the DraI restriction site denoted by the wildtype allele at rs6413432 (T).	CYP2E1*1A is associated with increased risk of ATT-DILI.	[85, 91, 92]
		CYP2E1*1A is not associated with increased risk of ATT-DILI.	[35, 62, 63, 65–68, 71, 74, 75, 77, 78, 86, 93, 94].
	*6, C C is defined as the lack of the DraI restriction site denoted by the variant allele at rs6413432 (A).	CYP2E1 *6 is associated with ATT-DILI.	[76, 84].
		CYP2E1 *6 is not associated with ATT-DILI.	[35, 63, 66, 78, 93].
	rs2070672 NM_000773.3:c.-352A>G	Presence of the G allele is not associated with ATT-DILI.	[75].
	rs2070673 NM_000773.3:c.-333A>T	Presence of the T allele is not associated with ATT-DILI.	[75].
HLA-DQA1	*0102	Lack of this allele is associated with ATT-DILI.	[109].
HLA-DQB1	*0201	The presence of this allele is not associated with ATT-DILI.	[109] – before the Bonferroni correction, this allele was associated with ATT-DILI.
SOD2	rs4880 NM_000636.2:c.47T>C	Presence of the C allele is associated with increased risk of DILI when treated with an anti-TB drug regimen, as well as other drugs.	[102].
NOS2A	rs11080344 NM_000625.4:c.1281+1205A>G	Genotype CC (positive strand) is associated with increased risk of ATT-DILI.	[108].
BACH1	rs2070401 NM_001186.3:c.*331A>G	Genotype GG is associated with increased risk of ATT-DILI.	[108].
MAFK	rs4720833 NM_002360.3:c.-45+3869A>G	Presence of the A allele is associated with increased risk of ATT-DILI.	[108].

^aSee www.pharmgkb.org for detailed annotations for individual studies.

^bNull genotype refers to the absence of the gene.