TABLE 1

Some CYP2B6 SNPs associated with increased efavirenz plasma levels

Note SNP frequency data taken from the 1000 genomes a deep catalog of human genetic variation release 17, http://browser.1000genomes.org. Allele nomenclature page: https://www.pharmvar.org/gene/CYP2B6.

Genomic IDCodingAmino Acid Location/ChangeExon/IntronReference SNP cluster IDVariant Allele Present inFrequency (%)Fold Increase in Efavirenz Plasma Level
Confirmed
 g.15631c.516G>TQ172HExon 4rs3745274*9, *6a, 7bOverall: 322–4c,d
African: 37
American: 37
East Asian: 22
European:24
South Asian: 38
 g.21011c.983T>CI328TExon 7rs28399499*18, *16eOverall: 22–11c,f
African: 8
American: 1
East Asian: 0
European: 0
South Asian: 0
 g.15582c.485-18C>TIntron 3rs4803419*1C, *13, *15Overall: 292g
African: 8
American: 35
East Asian: 44
European: 32
South Asian: 34
 g.21388c.1172T>AI391NExon 8rs35979566*15Overall: <13–5h
African: <1
American: <1
East Asian: 0
European: <1
South Asian: 0
Predicted
 g.136c.136A>GM46VExon 1rs35303484*12Overall: <1
African: <1
American: 0
East Asian: 0
European: <1
South Asian: <1
 g.12820c.296G>AG99EExon 2rs36060847*11Overall: <1
African: 0
American: <1
East Asian: 0
European: 0
South Asian: 0
 g.13072c.415G>AK139EExon 3rs12721655*8Overall: <1
African: <1
American: 0
East Asian: 0
European: <1
South Asian: <1
  • a The *6 allele also contains the c.A785G SNP, which by itself is known as the *4 allele.

  • b The *7 allele also contains c.A785G and the c.C1459T SNP.

  • c Uttayamakul et al. (2010).

  • d Wyen et al. (2008).

  • e The *16 allele also contains the c.A785G SNP.

  • f Holzinger et al. (2012).

  • g Bertrand et al. (2014).

  • h van Luin et al. (2009a).