Table 2. Genetic variants found only in patients receiving high opioid doses.
| Gene | Variant | DNA change | Molecular consequence | Potential functional effecta | dbSNP ID |
|---|---|---|---|---|---|
| OPRK1 | 54139145-SNV | c.*2712C>T | Noncoding | Reduced transcriptional efficiency | rs117602211 |
| 54141429-SNV | c.*428G>A | Noncoding | Reduced transcriptional efficiency | rs182444059 | |
| 54147531-SNV | c.398T>C | p.Ile133Thr | Missense mutation | rs146859342 | |
| OPRM1 | 154411110-SNV | c.440C>G | p.Ser147Cys | Missense mutation | rs17174794 |
| 154411245-SNV | c.575G>T | p.Cys192Phe | Missense mutation | rs62638690 | |
| 154439865-SNV | c.9C>T | — | — | rs11575858 | |
| 154439876-SNV | c.*20G>A | Noncoding | Reduced transcriptional efficiency | rs200778856 | |
| 154443060-SNV | — | — | — | — | |
| 154443067-SNV | — | — | — | — | |
| 154443459-SNV | — | — | — | — | |
| 154443510-SNV | c.*3689A>G | Noncoding | Reduced transcriptional efficiency | rs188792757 | |
| 154446218-SNV | — | — | — | rs190450820 | |
| 154448521-Ins | — | — | — | — | |
| 154449106-Ins | — | — | — | rs73022035 | |
| 154450157-SNV | — | — | — | — | |
| 154450988-MIX | — | — | — | — | |
| 154450973-MNP | — | — | — | — | |
| 154451224-MIX | — | — | — | — | |
| 154451843-SNV | c.*11987C>T | Noncoding | Reduced transcriptional efficiency | rs191957030 | |
| 154452251-SNV | c.*2395G>C | Noncoding | Reduced transcriptional efficiency | rs644261 | |
| 154453066-MIX | c.*13210A>G | Noncoding | Reduced transcriptional efficiency | rs184783311 | |
| 154453095-SNV | — | — | — | — | |
| SIGMAR1 | 34637690-SNV | c.5A>C | p.Gln2Pro | Missense mutation | rs1800866 |
Abbreviations: dbSNP, single-nucleotide polymorphism database; mutation variants are as follows: Ins, insertion; MIX, a mixture of variation types; MNP, multi-nucleotide polymorphism; SNV, single-nucleotide variation.
a
Potential consequences according to this review.21