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. Author manuscript; available in PMC: 2009 Jan 19.
Published in final edited form as: Circulation. 2008 Jan 7;117(4):517–525. doi: 10.1161/CIRCULATIONAHA.107.706317

Table 1.

SNPs Evaluated for Dose-Dependent Response With Tyramine Infusion

Gene Function/Gene Name Reference SNP* Locus Name Domain Position† Biological Effect
Catecholamine biosynthesis
 Tyrosine hydroxylase rs10770141 TH Promoter C-824T Converts tyrosine to L-Dopa,
which can be converted
to DA
 Dopamine β-hydroxylase rs1611115 DBH Promoter C-1021T Converts DA to NE, also
released with NE
 Cytochrome b-561 rs2058203 CYB561 Intron 1 C719G Shuttles electrons for
catecholamine synthesis
Catecholamine storage
 Chromogranin A rs7610 CHGA 3′-UTR C11825T Aids in formation of
secretory vesicle
 Chromogranin A rs9658655 CHGA Exon 6 Glu246Asp
 Chromogranin A rs9658634 CHGA Promoter G-462A
 Chromogranin B rs2821 CHGB 3′-UTR C13612A
 Chromogranin B rs236153 CHGB Exon 4 Glu348Glu
Catecholamine transport
 Vesicular monoamine
 transporter 1		 rs1497020 VMAT1=SLC18A1 3′-UTR T38292C Transports catecholamines
in and out of secretory
vesicles
 Vesicular monoamine
 transporter 2		 rs363227 VMAT2=SLC18A2 Intron 12 C25851T
 NE transporter rs5569 NET1=SLC6A2 Exon 9 Thr429Thr Reuptakes and releases
NE from axon
Storage vesicle acidification
 Vacuolar ATP synthase
 catalytic α-subunit		 rs12636577 ATP6V1A Intron 1 A31599G Acidification of the secretory
vesicle
 Vacuolar ATP synthase
 catalytic β-subunit		 rs17720303 ATP6V1B1 Exon 1 Ile30thr
Catecholamine metabolism
 Monoamine oxidase A rs6323 MAOA Exon 8 Arg297Arg Catalyzes oxidative
deamination of
catecholamines, to
inactivate
 Monoamine oxidase B rs1799836 MAOB Intron 13 A113683G
 Flavin-containing
 monooxygenase 3		 rs2266782 FMO3 Exon 4 Glu158Lys Degrades catecholamines
 Catechol-O-
 methyltransferase		 rs4680 COMT Exon 4 Met158Val Transfers methyl group
to catecholamines,
to inactivate

DA indicates dopamine; NE, norepinephrine; and UTR, untranslated region.

*

Reference SNP refers to National Center for Biotechnology Information classification (http://www.ncbi.nlm.nih.gov/projects/SNP).

†

Position of the SNPs within the promoters indicates base pairs upstream from the gene: for introns and 3′ UTRs, the base pairs from the CAP (transcription initiation) site; for exons, the location of the amino acid (Glu indicates glutamate; Asp, aspartate; Thr, threonine; Ile, isoleucine; Arg, arginine; Lys, lysine; Met, methionine; and Val, valine).