Table 1.

Select regulatory polymorphisms identified by Expression Genetics in Drug Therapy research group.

Gene	Polymorphisms	Function, mechanisms
OPRM1	Exonic SNP rs1799971 (A118G, N40D)	Stability and folding of mRNA; protein translation; may affect response to opioid antagonists in treatment of alcoholism
ABCB1	Exonic SNP rs1045642 (3435C>T, *13)	Stability and folding of mRNA; reduced expression; may affect drug response (e.g., of anti-HIV drugs targeting T lymphocytes)
TPH2	Haplotype containing SNPs rs2171363, rs4760815, rs735115, rs6582078 and rs9325202	Exon 7 splicing, enhanced expression; may modulate response to antidepressant drugs
DRD2	Intronic SNPs rs2283265 and rs1076560	Exon 6 alternative splicing to D2S and D2L; affects cognitive processing, cocaine response, possibly response to antipsychotic therapy and so on
ACE	Promoter SNPs rs7213516, rs7214530 and rs4290	Reduced transcription; may increase risk of coronary artery disease in African–Americans, and possibly response to ACE inhibitors
VKORC1	Promoter SNP rs9923231 (-1639G>A)	Histone modification, transcription; demonstration that -1639G>A is the regulatory variant that should be used in guiding warfarin therapy
CYP3A4	Intronic SNP rs35599367, *22	RNA folding and nascent RNA, reduced expression; affects metabolism of all CYP3A4 substrates including statins and immunosuppressants
CHRNA5	Enhancer SNPs rs1979905, rs1979906, rs1979907, r880395, rs905740 and rs7164030	Enhanced transcription; may affect nicotine addiction
NAT1	NAT1*10 and *11	Enhanced translation, gain of function; protects against skin toxicity caused by sulfamethoxazole in slow NAT2 metabolizers