Pharmacogenomics in the Management of Pulmonary Arterial Hypertension: Current Perspectives

Figures & data

Table 1 Pulmonary Hypertension Medications and Pharmacogenes of Interest

Medication	Gene	Variants	Functional Consequences
Treprostinil	CYP2C8	*3, *4	Reduced function
	CYP2C9	*2, *3	Reduced function, ↓ treatment persistence, ↑ activity score associated with ↓ risk of treatment discontinuation
	CAMK2D	rs10023113	↑CAMKIIδ, RV dysfunction, ↑treprostinil dose needed
	PFAS	rs11078738	↓cAMP, ↑treprostinil dose needed
Bosentan, Ambrisentan	GNG2	rs11157866	↑ likelihood and rate of clinical improvement
Bosentan	CYP2C9	*2	↑ALT, AST, and liver injury

Note: Data from these studies.^22–25,26.

Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase; CAMK2D, calcium/calmodulin dependent protein kinase II delta; cAMP, cyclic adenosine monophosphate; CAMKIIδ, calcium/calmodulin-dependent serine/threonine kinase-δ; CYP2C8, cytochrome P450 2C8 isoenzyme; CYP2C9, cytochrome P450 2C9 isoenzyme; GNG2, G protein subunit gamma 2; PFAS, phosphoribosylformylglycinamidine synthase; RV, right ventricular.

Seyfarth HJ, Favreau N, Tennert C, et al. Genetic susceptibility to hepatoxicity due to bosentan treatment in pulmonary hypertension. Ann Hepatol. 2014;13(6):803–809. doi:10.1016/S1665-2681(19)30983-4

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