Table 1.
Ten Markers Selected for Genotyping in This Study
| Marker | chr5bpa | Type | SLC6A3 Locationb | Supporting Evidence | Reference |
|---|---|---|---|---|---|
| rs3836790 | 1411855-6 | int8VNTRd | Intron 8 | ADHD, Drug addiction | Guindalini et al35 ; Laucht et al36 ; O’Gara et al37 ; Franke et al38 ; Maitra et al34 |
| Correlation with mRNA levels | Brookes et al39 | ||||
| In vitro functional | Guindalini et al35 ; Hill et al40 | ||||
| rs2455391 | 1443498 | SNP | Intron 1 (2051) | SCZ | Zheng et al41 |
| rs67175440 | 1443603c | SNP | Intron 1 (1945) | SCZ | Zheng et al41 |
| rs11564751 | 1447223 | SNP | −1675 | (novel core promoter region) | |
| rs11564750 | 1447762 | SNP | −2217 | ADHD | Doyle et al42 |
| rs3756450 | 1448148 | SNP | −2590 | SCZ | Talkowski et al21 |
| Protein binding in vitro | Bamne et al43 | ||||
| rs2550948 | 1450444 | SNP | −4896 | Depression | Huang et al44 |
| rs12652860 | 1453772 | SNP | −8223 | (novel) | |
| rs6860992 | 1455946 | SNP | −10 397 | (novel) | |
| rs70957367 | 1456666 | 5′VNTRe | −11 115 | Correlation with mRNA levels | Zhou et al17 |
Note: ADHD, attention deficit hyperactivity disorder; SCZ, schizophrenia; VNTR, variable number tandem repeat.
aPer GRCh37.p13.
bAssuming that TSS = 1.
cTogether with its adjacent SNP rs2975223 form a dinucleotide polymorphism (DNP, LD = 1), see Zhou et al17 .
d30bp repeat, n = 5–7.
e60bp repeats n = 6–8.