Table 2 Genetic variants found only in patients receiving high opioid doses

From: Emergent biomarker derived from next-generation sequencing to identify pain patients requiring uncommonly high opioid doses

Gene

Variant

DNA change

Molecular consequence

Potential functional effect a

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

  1. 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.
  2. aPotential consequences according to this review.21
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