Table 2 Polymorphism Descriptions
From: Number of risk genotypes is a risk factor for major depressive disorder: a case control study
Gene Name | Risk Genotype | Gene function | Type of Polymorphism | Chromosome Location | location in gene; details |
|---|---|---|---|---|---|
TFAP2B | ss/sl | transcription factor | (CAAA)5–6 | 6p12–p21.1 | intron 2 near 3' splice site of exon 2; SLC6A4, HTR2A, DbH, DRD1, SLC6A3 have Ap2B binding sites |
BDNF | AA | Neurotrophic factor | G-->A SNP at nucleotide 196; rs6265; | 11p13 | proBDNF coding region; (val66met) |
SLC6A4_IN/DEL | ll | Serotonin transporter | 44 bp in/del (5-HTTLPR) | 17q11.1–q12 | Promoter; actually a VNTR (xs-xl) |
SLC6A4_VNTR | 10/12 | Serotonin transporter | VNTR of 17 bp element (9–12 copies) | 17q11.1–q12 | intron 2 |
DRD4_IN/DEL | sl/ss | Dopamine receptor D4 | 120 bp in/del | 11p15.5 | 5'-UTR |
DRD4_VNTR | 0 or 1 7R | Dopamine receptor D4 | 48 bp VNTR | 11p15.5 | exon 3 |
HTR2A | CC/CT | Serotonin post-synaptic receptor 2A | C102T SNP; rs6313 | 13q14–q21 | exon 1 |
SLC6A3 | 9/9 and 9/10 | Dopamine transporter (SLC6A3) | 40 bp VNTR (9 and 10 repeats most frequent, but 3–11 copies possible) | 5p15.3 | 3' non-coding region of exon 15 |
rs165599 COMT | GG | CATECHOL-O-METHYLTRANSFERASE | G-->A SNP (MspI); rs165599 | 22q11.2 | 3'-UTR; maybe in mRNA |
DRD3 | GG | Dopamine receptor D3 | G-->A SNP (Glycine--> serine) (MscI, isoschizomer of BalI) rs6280 | 3q13.3 | exon 1 (N-terminal extracellular domain) |
DRD1 | GG | Dopamine Recptor D1 | G-->C SNP (HaeIII) | 5q35.1 | -1251 |
DRD1 | CC | Dopamine Recptor D1 | T-->C SNP (Bsp1286I) | 5q35.1 | 1403 |
DRD1 | TT | Dopamine Recptor D1 | T-->C SNP (HaeIII) | 5q35.1 | -800 |
HTR6 | CC | Serotonin receptor 6A | T267C SNP (RsaI) Tyr(89) silent mutation; rs1805054 | 1p36–p35 | coding region (1st extracellular loop) |
DRD1 | GG | Dopamine Recptor D1 | G-->A SNP (DdeI) | 5q35.1 | -48 |
re4680 COMT | GG | CATECHOL-O-METHYLTRANSFERASE | G-->A SNP (va158met) (NlaIII) rs4680 | 22q11.2 | 4th exon (codon 158 or 108) |
MAOA | ≥3.6R combinations | Monoamine Oxidase type A | 30 bp VNTR (2R, 3R, 3.6R, 4R, 5R, 7R) | Xp11.23 | 1.2 kb upstream of coding region; promoter |
HTR1A | GG/CG | Serotonin Receptor 1A | C-->G SNP (BstF5I) at position -1019 from ATG start site | 5q11.2–q13 | PCR fragment is from -1158 to -996 from ATG start site strobel, 2003; promoter |
DBH | TT (A1/A1) | Dopamine-beta-hydroxylase | C-->T SNp at position 1604; R535C (BstUI); rs6271 | 9q34 | exon 11: 142 bp fragment (originally FnuDII digest). A1: 95, 47 bp; A2: 66, 47, 29 bp. |
TPH2 | GG | Tryptophan Hydroxylase 2 (neuronal TPH) | A-->G; rs1386494 | 12q21.1 | intron 5 |
TH | 0,1 | Tyrosine Hydroxylase | VNTR | 11p15.5 | Â |