Aperçu: G.M.
Compte tenu du rôle de VMAT1 dans la régulation des monoamines,
l'expression dérégulée de cette protéine pendant les premiers stades du
développement du cerveau pourrait être impliquée dans les TSA
Gene. 2017 May 2. pii: S0378-1119(17)30327-X. doi: 10.1016/j.gene.2017.05.003.
Association study of the vesicular monoamine transporter 1 (VMAT1) gene with autism in an Iranian population
Author information
- 1
- Young Researchers and Elite Club, Ahvaz Branch, Islamic Azad University, Ahvaz, Iran.
- 2
- Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
- 3
- Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Urogenital stem cell research, Shahid Beheshti University of Medical sciences, Tehran, Iran.
- 4
- Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Urogenital stem cell research, Shahid Beheshti University of Medical sciences, Tehran, Iran. Electronic address: mohammad.taheri@sbmu.ac.ir
Abstract
Autism
Spectrum Disorders (ASD) (MIM 209850) are a group of neurodevelopmental
disorders distinguished by destructed social interaction and
communication abilities along with peculiar repetitive behavior. Several
genetic loci have been linked to this disorder. Vesicular monoamine
transporter 1 (VMAT1/SLC18A1) is an attractive candidate gene for
psychiatric disorders because of its participation in regulation
monoamines. In the present case-control study, we evaluated the link
between three non-synonymous single nucleotide polymorphisms (SNPs)
(rs2270641 [Pro4Thr], rs2270637 [Thr98Ser] and rs1390938 [Thr136Ile])
and one intronic SNP (rs2279709) across the VMAT1 gene and ASD in a
group of Iranian patients. Allele frequency analyses showed significant
over-presentation of rs1390938-G allele in cases compared with controls
(P<0.001). The analysis under different genetic models showed that
the AA genotype of the rs1390938 was protective against ASD under
dominant and recessive models. The rs2270641 SNP was associated with ASD
risk only in over-dominant model. Other SNPs showed no significant
difference in allele or genotype frequencies between two groups.
Haplotype analysis revealed that C A T T and C A T G haplotypes
(rs2270637, rs1390938, rs2279709 and rs2270641 respectively) have a
protective effect against ASD. Consequently, the functional rs1390938
SNP in VMAT1 is associated with ASD in Iranian population. Considering
the role of VMAT1 in regulation of monoamines, the dysregulated
expression of this protein during early stages of brain development
might be implicated in ASD.
Copyright © 2017. Published by Elsevier B.V.
KEYWORDS:
Autism; Polymorphism; VMAT1- PMID: 28476685
- DOI: 10.1016/j.gene.2017.05.003
