Gene Report

Approved Symbol	SLC18A1
Previous Symbol	VMAT1, VAT1
Symbol Alias	CGAT
Approved Name	solute carrier family 18 (vesicular monoamine transporter), member 1
Location	8p21.3
Position	chr8:20144855-20183206, -1
External Links	HGNC: 10934 Entrez Gene: 6570 Ensembl: ENSG00000036565 UCSC: uc003wzm.3
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Lohoff, F. W., 2006	SNP: rs1390938, rs1497020, rs2270637, rs2270641, rs2279709, rs3735835, rs988713 Haplotype: rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(A-Thr-Thr-Thr-A-G), rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(A-Thr-Thr-Thr-A-C), rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(A-Thr-Ser-Thr-C-G), rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(A-Pro-Thr-Thr-C-C), rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(G-Thr-Thr-Ile-A-G)	Results suggest that variations in the VMAT1 gene may confer susceptibility to BPD in patients of European descent. Additional studies are necessary to confirm this effect and to elucidate the role of VMAT1 in central nervous system physiology. Expression analysis confirmed that VMAT1 is expressed in human brain at the mRNA and protein level.	Positive	Comment on Study
Lohoff, F. W., 2013	SNP: rs150204882, rs17215801, rs17222218, rs148468662, rs17222183	Deep sequencing of bipolar disorder (BPD) patients and controls identified several rare novel VMAT1 variants. The variant Phe84Ser was only present in individuals with BPD and leads to marked increase monoamine transport in vitro. Taken together, our data show that VMAT1 polymorphisms influence monoamine signaling, the functional response of emotional brain circuits and risk for psychopathology	Positive	Comment on Study
Yosifova, A.,2009	SNP: rs1390938, rs2279709, rs988713	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study

Region: chr8:20144855..20183206 View in gBrowse