rs2270641 is a SNP in the vesicular monoamine transporter SLC18A1 gene, encoding a Thr4Pro substitution. In dbSNP orientation, the (G) allele is associated with the Proline.
A study of 62 patients with schizophrenia concluded that the frequency of rs2270641(G;G) homozygotes was significantly higher. The reported odds ratio was 3.74 (CI: 1.7-8.2, p=0.0006) in this population of European descent.[PMID 18451639]
Note: another SNP, rs56575139, marks the same genomic location as rs2270641.
[PMID 16936705] Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder.
[PMID 17134514] Association study of the vesicular monoamine transporter 1 (VMAT1) gene with schizophrenia in a Japanese population.
[PMID 19911060] Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.
[PMID 28476685] Association study of the vesicular monoamine transporter 1 (VMAT1) gene with autism in an Iranian population.
[PMID 29602729] Sperm count and motility are quantitatively affected by functional polymorphisms of HTR2A, MAOA and SLC18A.