Gene Report

Approved Symbol	SLC6A3
Previous Symbol	DAT1
Symbol Alias	DAT
Approved Name	solute carrier family 6 (neurotransmitter transporter), member 3
Previous Name	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3, "dopamine transporter 1"
Name Alias	dopamine transporter
Location	5p15.3
Position	chr5:1392790-1445430, -1
External Links	HGNC: 11049 Entrez Gene: 6531 Ensembl: ENSG00000142319 UCSC: uc003jck.3
No. of Studies	11 (Positive: 5; Negative: 6; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Stober, G., 2006	SNP: rs2617596, rs2652511, rs2975226, rs6413429 Other variant: SLC6A3_1436209 C>G	In conclusion, our data do not provide evidence for a major role of the 5'-UTR of the dopamine transporter gene in bipolar affective disorder. A minor contribution of distinct genotypes may be possible and warrants replication in extended samples.	Negative	Comment on Study
Mick, E., 2008	SNP: rs11133767, rs11564767, rs11564773, rs11737901, rs12516758, rs246995, rs2617605, rs2652510, rs27048, rs27072, rs27074, rs2735917, rs2963238, rs2975292, rs37022, rs3756450, rs3776512, rs3863145, rs40184, rs403636, rs456082, rs460000, rs464049, rs464528, rs4975646, rs6350 Other variant: rs10064525	Results indicated nominally positive association for 4 SNPs (rs40184, rs11133767, rs3776512, and rs464049), but only rs40184 survived correction formultiple statistical comparisons (P=0.038). . These data provide suggestive evidence supporting a role for SLC6A3 in the etiology of pediatric bipolar disorder.	Positive	Comment on Study
Bocchetta, A.,1999	Other variant: DAT_40bp repeat	Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphism.	Negative	Comment on Study
Kirov, G.,1999(a)	Other variant: DAT_VNTR	No statistically significant differences were found between transmitted and not transmitted alleles for any of the polymorphisms studied.	Negative	Comment on Study
Pinsonneault, J. K.,2011	SNP: rs27072, rs28363170, rs37022, rs3836790, rs40184, rs464049, rs6347	This result was replicated in a second bipolar/control population (OR = 1.65, p = 0.01), supporting a critical role for DAT regulation in bipolar disorder.	Positive	Comment on Study
Greenwood, T. A.,2001	Haplotype: (DAT_E15+274G/C) - (DAT_E15+352G/A) - (DAT_E15+1812T/C)(), (DAT_E9+59A/G) - (DAT_I9+102G/T)(), (DAT_E9+59A/G) - (DAT_I9+102G/T) - (DAT_I9-21G/A) - (DAT_E15+274G/C) - (DAT_E15+1812T/C)(), (DAT_I1+1036C/A) - (DAT_I1+1736G/A)(), (DAT_I1+1860A/G) - (DAT_I1+1861G/A) - (DAT_I2+48G/A)(), (DAT_I9+102G/T) - (DAT_I9-21G/A) - (DAT_I10+117G/A)(), (DAT_I9+102G/T) - (DAT_I9-21G/A) - (DAT_I10+117G/A) - (DAT_E15+274G/C) - (DAT_E15+352G/A) - (DAT_E15+1812T/C)(), (DAT_P+214A/G) - (DAT_I1+1036C/A) - (DAT_I1+1736G/A) - (DAT_I1+1860A/G) - (DAT_I2+48G/A) - (DAT_I6+96G/C)() Other variant: DAT_E15+1812T/C, DAT_E15+274G/C, DAT_E15+352G/A, DAT_I10+117G/A, DAT_I6+96G/C, DAT_I9-21G/A, DAT_P+214A/G, DAT_VNTR	These data replicate our previous finding of linkage to markers within and near DAT in a largely different family set, and provide further evidence for a role of DAT in bipolar disorder.	Positive	Comment on Study
Grunhage, F.,2000	Other variant: SLC6A3_1342A/G, SLC6A3_1398-21G/A, SLC6A3_1398-56A/G, SLC6A3_1626+14G/A, SLC6A3_1859C/T, SLC6A3_1967+29insTC, SLC6A3_242C/T, SLC6A3_547-12C/A, SLC6A3_Ala559Val, SLC6A3_Glu602Gly	No significant association was observed in BD.	Negative	Comment on Study
Souery, D.,1996(b)	Other variant: DAT_VNTR	Association and linkage disequilibrium were excluded between bipolar affective disorder and these four candidate genes in our sample.	Negative	Comment on Study
Ohadi, M., 2007	Other variant: SLC6A3_-67A/T	These findings imply gender dimorphism with respect to the DAT1 -67 alleles and susceptibility to disease	Positive	Comment on Study
Kelsoe, J. R.,1996	Other variant: D5S392, HDAT-PCR1	These results suggest the presence of a susceptibility locus for bipolar disorder near the DAT locus on chromosome 5.	Positive	Comment on Study
Manki, H.,1996	Other variant: DAT_40bp repeat	Our results suggest that there is a significant association between the dopamine D4 receptor gene and mood disorders, especially major depression, but no association between the other polymorphisms and mood disorders.	Negative	Comment on Study

Region: chr5:1392790..1445430 View in gBrowse