Table 2.
Variant CYP2C8 alleles
| CYP2C8 allele | dbSNP numbera | Nucleotide change | Location | Effect on protein | Enzyme activity (in vitro) | Approximate allele frequencies in major race groups | References |
|---|---|---|---|---|---|---|---|
| *1 (also known as *1A) | – | – | – | Wild type | Normal | – | Klose et al. [5] |
| *1B | rs7909236 | –271C>A | Promoter | Increased promoter activity | CEU, 23%; HCB, 10%; JPT, 9%; YRI, 0%b | Bahadur and colleagues [79,80] | |
| *1C | rs17110453 | –370T>G | Promoter | Unknown | - | CEU, 12%; HCB, 28%; JPT, 34%; YRI, <1%b | Bahadur et al. [79] |
| *2 | rs11572103 | c.805A>T | Exon 5 | p.I269F | Decreased | CEU, 0%; HCB, 0%; JPT, 0%; YRI, 19%b | Dai and colleagues [81–84] |
| *3 | rs11572080 | c.416G>A | Exon 3 | p.R139K | Increased, decreased, or unchanged | CEU, 11–14%; HCB, 0%; JPT, 0%; YRI, 0%b | Bahadur and colleagues [79–92] |
| rs10509681 | c.1196A>G | Exon 8 | p.K399R | ||||
| *4 | rs1058930 | c.792C>G | Exon 5 | p.I264M | Decreased or unchanged | CEU, 7%; HCB, 0%; JPT, 0%; YRI, <1%b | Bahadur and colleagues [79,80,83,84,86,88,93,94] |
| *5 | rs72558196 | c.475delA | Exon 3 | p.T159 frameshift | None | Japanese, <1% | Soyama and colleagues [92,95–97] |
| *6 | rs142886225 | c.511G>A | Exon 4 | p.G171S | Unchanged | Japanese, <1% | Saito and colleagues [96,98] |
| *7 | rs72558195 | c.556C>T | Exon 4 | p.R186X | None | Japanese, <1% | Saito and colleagues [96,98] |
| *8 | rs72558195 | c.556C>G | Exon 4 | p.R186G | Decreased | Japanese, <1% | Saito and colleagues [96,98] |
| *9 | – | c.740A>G | Exon 5 | p.K247R | Unchanged | Japanese, <1% | Saito and colleagues [96,98] |
| *10 | – | c.1149G >T | Exon 7 | p.K383N | Unchanged | Japanese, <1% | Saito and colleagues [96,98] |
| *11 | rs78637576 | c.820G>T | Exon 6 | p.E274X | None | White, 0%; Asian, ≤ 1%; African-American, 0% | Yeo et al. [99] |
| *12 | rs3832694 | c.1382_1384delTTG | Exon 9 | p.461delV | Unknown | Japanese, <1% | Saito et al. [96] |
| *13 | – | c.669T>G | Exon 5 | p.I223M | Unchanged | Japanese, <1% | Saito and colleagues [96,100–102] |
| *14 | rs188934928 | c.712G >C | Exon 5 | p.A238P | Decreased | Japanese, <1% | Saito and colleagues [96,100–102] |
| Not assigned | rs66501115 | c.1210C>G | Exon 8 | p.P404A | Decreased | Japanese, <1%; African, 2% | Soyama and colleagues [85,94,103] |
CEU, Utah residents with Northern and Western European ancestry from the CEPH collection; dbSNP, single nucleotide polymorphism database; HCB, Han Chinese in Beijing, China; JPT, Japanese in Tokyo, Japan; YRI, Yoruba in Ibadan, Nigeria.
a
RefSNP accession number in dbSNP (http://www.ncbi.nlm.nih.gov/snp/).
b
Frequencies based on HapMap data available in dbSNP.