Table 1.
ALCOHOL/ALDEHYDE METABOLISM
|
ALCOHOLISM
|
AUTISM SPECTRUM DISORDER
|
||||
---|---|---|---|---|---|---|
GENE | LOCI | GENE | LOCI | GENE | LOCI | |
Risk loci98 | 1q21.1 | |||||
CHDIL | 1q21.1 | |||||
ALDH9A1 3rd step of carnitine biosynthesis; also ABA pathway | 1q22-q23 (or 1q24.1) |
|||||
SERINC2150 | 1p35.2 | |||||
OPRD1 | 1p35.3 | |||||
AUTS11 | 1q41 | |||||
ALDH4A1§ Hyperprolinemia type II, seizures |
1p36.13 (or 1p36) |
|||||
NRXN1 | 2p16.3 | |||||
XDH or XO Acetaldehyde oxidation | 2p23.1 | |||||
AUTS5 | 2q | |||||
SCN2A | 2q24.3 | |||||
ALDH7A1P2 | 2q31.1 | |||||
ZNF804A113 | 2q32.1 | |||||
IP 3R151 | 3p26.1 | |||||
ALDH1L1 Tetrahydrofolate metabolism | 3q21.3 | |||||
SLC9A9 | 3q24 | |||||
AUTS8 | 3q25-q27 | |||||
Risk loci98 | 3q29 | |||||
GABRA2 | 4p12 | |||||
GABA4 | 4p12 | |||||
CD38108 | 4p15.32 | |||||
SNCA REP1 | 4q22.1 | |||||
ADH family Ethanol, retinol & neurotransmitter metabolism | 4q21-4q25 | ADH1B | 4q23 | |||
ADH1C† | 4q23 | ADH1C†,104 | 4q23 | |||
ADH4 | 4q23 | |||||
ADH7 | 4q23 | |||||
DKK2 | 4q25 | |||||
ALDH7A1P1 | 5q14 (Gene Atlas) |
|||||
ALDH7A1§ Antiquitin, seizures Lipid peroxidation metabolism |
5q23.2 | |||||
GABA-A | 5q34 | |||||
ALDH5A1§ SSADH Deficiency |
6p22.3 | |||||
ALDH8A1 Retinol metabolism | 6q23.3 (6q24.1-q25.1) |
|||||
NYP | 7p15 | |||||
Ethanol Consumption†,106 | 7q11.22 | AUTS2†,106 | 7q11.22 | |||
AUTS1 | 7q22 | |||||
AUTS9 | 7q31 | |||||
TAS2R16 | 7q31.32 | |||||
CHRM2 | 7q35 | |||||
AUTS10 | 7q36 | |||||
CNTNAP2 | 7q35-q36 | |||||
ALDH7A1P3 | 7q36.1 | |||||
OPRK1 | 8q11.23 | |||||
ALDH1B1Ethanol detoxification | 9p13.2 | |||||
ALDH1A1 Ethanol & retinolmetabolism | 9q21.13 | |||||
ALDH18A1§ Glutamate metabolism |
10q24.1 | |||||
CYP2E1 Metabolism of ethanol, drugs, hormones, & xenobiotic toxins | 10q26.3 | CYP2E1†,152,153 | 10q26.3 | CYP2E1†,105 | 10q26.3 | |
CAT Ethanol metabolism | 11p13 | |||||
SHANK2 | 11q13 | |||||
ALDH3B1 Ethanol metabolism Lipid peroxidation | 11q13.2 | |||||
ALDH3B2 | 11q13.2 | |||||
AASDHPPT α-aminoadipate dehydrogenase-phosphopante-theinyl transferase Lysine degradation | 11q22 | |||||
ANKK1 | 11q23 | |||||
DRD2 | 11q23 | |||||
PKNOX2150 | 11q24.2 | |||||
GRIN2B | 12p13.1 | |||||
AUTS13 | 12q14 | |||||
ALDH1L2 Tetrafolate metabolism | 12q23.3 | |||||
ALDH2 Ethanol metabolism | 12q24.2 | ALDH2 | 12q24.2 | |||
AUTS3 | 13q14.2-q14.1 | |||||
HTR2A | 13q14.2 | |||||
RCBTB1 | 13q14.2 | |||||
CHD8 | 14q11.2 | |||||
ALDH6A1§ Methylmalonate semial-dehyde dehydrogenase deficiency |
14q24.3 | |||||
NRXN3† | 14q24.3-q31.1 | NRXN3† | 14q24.3q31.1 | |||
AUTS4 | 15q11.2-q13 | |||||
Risk loci98 | 15q11.2-q13 | |||||
ALDH1A2 Retinoic acid biosynthesis | 15q21.3 | |||||
ALDH1A3§ Microphthalmia; autism; anophthalmia; retinoic acid biosynthesis; and possibly GABA problem in mice |
15q26.3 | ALDH1A3§ | 15q26.3 | |||
Risk loci98 | 16p11.2 | |||||
AUTS14A | 16p11.2 | |||||
AUTS14B | 16p11.2 | |||||
ALDH3A1 Major corneal protein | 17p11.2 | |||||
ALDH3A2§ Oxidation of long chain fatty aldehydes in lipid metabolism; Sjörgren-Larsson syndrome |
17p11.2 | |||||
SLC6A4† | 17q11.2 | SLC6A4† | 17q11.2 | |||
AUTS7 | 17q21 | |||||
ALDH16A1 | 19q13.33 | |||||
AUTS12 | 21p13-q11 | |||||
COMT | 22q11 | |||||
Risk loci98 | 22q11.2 | |||||
Risk loci98 | 22q13.33 | |||||
NLGN3 | Xq13.1 | |||||
NLGN4 | Xp22.32-p22.31 | |||||
MECP2 | Xq28 Rett syndrome | |||||
PTCHD1 | Xp22.11 | |||||
RPL10 | Xq28 | |||||
TMLHE | Xq28 |
Notes:
The susceptibility chromosomal loci or genes for each disorder were listed in OMIM154 unless otherwise specified.
fLoss of function in these genes are associated with single-gene disorders that express symptoms similar to those found in ASD.
These genes have been implicated in both alcoholism and autism.