Table 1.
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).