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Table 1 Patient genotype for selected SNPs

From: Pharmacological counseling in hepatotoxicity induced by macitentan and selexipag:  a case report 

Gene

SNP

Nucleotide change

AF (%)

SNP effect

Patient genotype

Effects on metabolism/transport

CYP2C8

rs11572103 (*2)

c.805A>T

19

Decreased enzyme activity

*2/*2 (T/T)

↑↑

 

rs11572080 (*3)

c.416G>A

12

Decreased enzyme activity

*1/*2 (G/A)

 

rs1058930 (*4)

c.792C>G

7

Decreased enzyme activity

*1/*4 (C/G)

CYP2C9

rs1799853 (*2)

c.430C>T

10

Decreased enzyme activity

*2/*2 (T/T)

↑↑

 

rs1057910 (*3)

c.1075A>C

5

Decreased enzyme activity

*1/*3 (A/C)

UGT1A9

rs3832043 (*22)

(DT)9>10

40

Increased enzyme activity

*1/*1 (DT)9/9

=

 

rs72551330 (*3)

c.98T>C

5

Decreased enzyme activity

*1/*1 (T/T)

=

SLCO1B1

rs2306283 (*1b)

c. 492A>G

50

Reduced transport activity

*1/*1 (A/A)

=

 

rs4149056 (*5)

625T>C

14

Reduced transport activity

*1/*1 (T/T)

=

  1. AF allelic frequencies in Caucasian populations