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. Author manuscript; available in PMC: 2015 Dec 18.
Published in final edited form as: Pharmacogenomics J. 2013 Apr 16;14(2):160–170. doi: 10.1038/tpj.2013.13

Table 9.

Pharmacogenomic diversity in African populations

Drug Drug responsea Gene Variant Functional annotation Sqb Central
Africans		 Eastern
Africans		 Saharan
Africans		 Southern
Africans		 Western
Africans
Anthracyclines and related substances
  Anthracycline Increased risk of
cardiotoxicity and heart
failure		 UGT1A6
ABCC2
ABCB1
ABCC1/6 		rs17863783
rs8187710
rs2235047
rs4148350		 Coding SYNON V209V
Coding NONSYN (C1515Y)
Intron
Intron		 A/C
A/G
C/A
A/C		 0.090
0.213
0.139
0.169		 0.128
0.257
0.178
0.122		 0.184
0.237
0.211
0.053		 0.129
0.200
0.213
0.135		 0.088
0.219
0.235
0.176
Decreased risk of
cardiotoxicity and heart
failure		 RAC2
SULT2B1
CBR1
HNMT 		rs13058338
rs10426377
rs9024
rs17645700		 Intron
Intron
Flanking_3UTR
Flanking_3UTR		 T/A
A/C
A/G
G/A		 0.108
0.223
0.000
0.066		 0.134
0.158
0.013
0.044		 0.132
0.211
0.053
0.000		 0.079
0.146
0.017
0.056		 0.029
0.206
0.029
0.000
Increased likelihood of
dose reduction		 CYP2B6 rs3745274 Coding NONSYN Q172H
(CYP2B6*6)		 A/C 0.783 0.748 0.658 0.837 0.824
Increased response ABCB1 rs2032582 Coding NONSYNON
(ABCB1*13 and ABCB1*2)		 A/C 0.036 0.034 0.026 0.045 0.059
Platinum compounds
  Cisplatin Increased risk of hearing
loss (ototoxicity)		 COMT rs9332377 Intron A/G 0.323 0.352 0.237 0.330 0.206
Decreased risk of severe
neutropenia		 XRCC1 rs25487 Coding NONSYN Q399R A/G 0.193 0.128 0.211 0.135 0.118
Increased likelihood of
drug toxicity
 MTR rs1805087 Coding NONSYN D919G G/A 0.295 0.262 0.132 0.287 0.324
Increased response MTHFR rs1801133 Coding NONSYN A222V A/G 0.048 0.060 0.132 0.090 0.059
  Carboplatin Decreased risk of severe
neutropenia		 XRCC1 rs25487 Coding NONSYN Q399R A/G 0.193 0.128 0.211 0.135 0.118
Increased response MTHFR rs1801133 Coding NONSYN A222V A/G 0.048 0.060 0.132 0.090 0.059
  Oxaliplatin Decreased risk of severe
neutropenia
Increased response		 XRCC1

MTHFR 		rs25487

rs1801133		 Coding NONSYN Q399R

Coding NONSYN A222V		 A/G

A/G		 0.193

0.048		 0.128

0.060		 0.211

0.132		 0.135

0.090		 0.118

0.059
Antimetabolites
  PYRIMIDINE
COMPOUNDS
Fluorouracil		 Increased risk of toxicity
of fluoropyrimidine-
based chemotherapy		 DPYD

DPYD 		rs1801265

rs2297595		 Coding NONSYN R29C
(DPYD*9A,)
Coding NONSYN M166V		 G/A

G/A		 0.452

0.253		 0.550

0.141		 0.579

0.079		 0.381

0.275		 0.529

0.147
Increased response MTHFR rs1801133 Coding NONSYN A222V A/G 0.048 0.060 0.132 0.090 0.059
Vincristine
  Vincristine Increased risk of drug toxicity MTHFR rs1801133 Coding NONSYN A222V A/G 0.048 0.060 0.132 0.090 0.059
Improved response ABCB1 rs2032582 Coding NONSYNON (ABCB1*13 and ABCB1*2) A/C 0.036 0.034 0.026 0.045 0.059
Vincristine main metabolic substrate CYP3A5 rs776746 Intron (CYP3A5*3) A/G 0.771 0.799 0.684 0.685 0.500
CYP3A5
CYP3A5 		rs10224569 rs10264272
 Intron
Coding SYNON K208K
(CYP3A5*6)
 A/G
A/G		 0.367
0.283
 0.260
0.209		 0.316
0.289		 0.264
0.191		 0.147
0.147
CYP3A5
CYP3A5
CYP3A5 		rs10249369 rs41303343
rs6956305		 Intron
Coding FRAMESHIFT
Flanking_3UTR		 G/A
A/T
G/A		 0.277
0.036
0.066		 0.205
0.111
0.117		 0.263
0.079
0.079		 0.193
0.062
0.079		 0.147
0.029
0.059
Nucleoside reverse-transcriptase inhibitors
  Tenofovir Increased risk of
proximal tubulopathy
and risk of kidney
tubular dysfunction		 ABCC2
ABCC2 		rs717620
rs17222723		 Flanking_5UTR
Coding NONSYNON		 G/A
T/A		 0.957
0.151		 0.990
0.138		 0.974
0.211		 0.944
0.135		 0.941
0.118
Increased risk of
proximal tubulopathy		 ABCC4 rs1751034 Coding FRAMESHIFT G/A 0.325 0.305 0.237 0.292 0.441
Nonnucleoside reverse-transcriptase inhibitors
  Nevirapine Increased risk of
hepatotoxicity		 CYP2B6 rs28399499 Coding NONSYN I328T
(CYP2B6*16/*18)		 G/A 0.012 0.067 0.000 0.080 0.029
  Efavirenz Increase in HDL-
cholesterol levels		 CYP2B6 rs3745274 Coding NONSYN Q172H
(CYP2B6*6)		 A/C 0.783 0.748 0.658 0.837 0.824
Increased risk of
neurotoxicity, CNS
depression and
neuropsychiatric
disorders		 CYP2B6 rs3745274 Coding NONSYN Q172H
(CYP2B6*6)		 A/C 0.783 0.748 0.658 0.837 0.824
Increased risk of fatigue
and sleep disorder		 CYP2B6 rs3745274 Coding NONSYN Q172H
(CYP2B6*6)		 A/C 0.783 0.748 0.658 0.837 0.824
Increased risk of
hepatotoxicity and drug-
induced liver injury		 CYP2B6 rs3745274 Coding NONSYN Q172H
(CYP2B6*6)		 A/C 0.783 0.748 0.658 0.837 0.824
Protease Inhibitors
  Ritonavir Increased risk of extreme
hypertriglyceridemia		 APOE rs429358 Coding NONSYN C130R G/A 0.179 0.284 0.211 0.247 0.324
Antituberculosis therapy
  Rifampicin Increased risk of
hepatotoxicity and drug-
induced liver injury		 CYP2B6 rs3745274 Coding NONSYN Q172H
(CYP2B6*6)		 A/C 0.783 0.748 0.658 0.837 0.824

Abbreviations: CNS, central nervous system; HDL, high-density lipoprotein; UTR, untranslated region.

a

Clinical annotation curated from PharmGKB,20 http://www.hiv-pharmacogenomics.org and published studies.

b

Sq, sequence (minor/major).