Table 2.
Putative functional CYP2C8 polymorphisms and allele frequencies.
| Allele | dbSNP number or Human Genome Variation Society number | Nucleotide or amino acid change | Location | Allele frequency: Caucasian (%) | Allele frequency: Chinese (%) | Allele frequency: Japanese (%) | Allele frequency: African (%) |
|---|---|---|---|---|---|---|---|
| CYP2C8*1 (also called *1A) | Wild-type | ||||||
| CYP2C8*1B | rs7909236 | -271C>A | Promoter | 23.3 | 10 | 8.9 | 0 |
| CYP2C8*1C | rs17110453 | -370T>G | Promoter | 11.7 | 27.8 | 34.4 | 0 |
| CYP2C8*2 | rs11572103 | Ile269Phe | Exon 5 | 0 | 0 | 0 | 19 |
| CYP2C8*3 | rs11572080 | Arg139Lys | Exon 3 | 10.8 | 0 | 0 | 0 |
| rs10509681 | Lys399Arg | Exon 8 | 11.7 | 0 | 0 | 0 | |
| CYP2C8*4 | rs1058930 | Ile264Met | Exon 5 | 5.8 | 0 | 0 | 0 |
| CYP2C8*5 | rs72558196 | Thr159X | Exon 3 | – | – | 0.2‡ | – |
| CYP2C8*6 | NT_030059.12:g.15573214G>A | Gly171Ser | Exon 4 | – | – | 0.2‡ | – |
| CYP2C8*7 | rs72558195 | Arg186X | Exon 4 | – | – | 0.1‡ | – |
| CYP2C8*8 | rs72558195 | Arg186Gly | Exon 4 | – | – | 0.1‡ | – |
| CYP2C8*9 | NT_030059.12:g.15566697A>G | Lys247Arg | Exon 5 | – | – | 0.1‡ | – |
| CYP2C8*10 | NT_030059.12:g.15551173G>T | Lys383Asn | Exon 7 | – | – | 0.1‡ | – |
| CYP2C8*12 | rs3832694 | 461delV | Exon 9 | – | – | 0.1‡ | – |
| CYP2C8*13 | NT_030059.12:g.15566768T>G | Ile223Met | Exon 5 | – | – | 0.1‡ | – |
| CYP2C8*14 | NT_030059.12:g.15566725G>C | Ala238Pro | Exon 5 | – | – | 0.1‡ | – |
| Not assigned | rs17851796 | Ala82Ser | Exon 2 | – | – | – | – |
| Not assigned | rs41286886 | Val181Ile | Exon 4 | – | – | – | – |
| Not assigned | rs11572102 | Ile244Val | Exon 5 | 0 | 0 | 0 | 1.7 |
| Not assigned | rs45438799 | Leu361Phe | Exon 7 | – | – | – | – |
| Not assigned | Pro404Ala | Exon 8 | – | – | 0.7‡ | 2.2 |
Polymorphisms are presented based on data summarized in dbSNP [201], the Human Cytochrome P450 Allele Nomenclature Committee [202] and previously published literature [1,7,14,115]. Allele frequencies for CYP2C8*1B, *1C, *2, *3, *4, Ile244Val and Pro404Ala are based on HapMap data available in dbSNP.
‡
If polymorphism allele frequencies were not available in dbSNP, relevant published literature was used [14].
–: Allele frequency data were not available; Caucasian: Centre d’Etude du Polymorphisme Humain (Utah residents with ancestry from northern and western Europe); Chinese: Han Chinese in Beijing, China; Japanese: Japanese in Tokyo, Japan; African: Yoruba in Ibadan, Nigeria