International Meeting for Autism Research: Association STUDY of Vesicle-ASSOCIATED Membrane PROTEIN 7 VAMP7/SYBL1 Gene with Autistic PATIENTS

Friday, May 21, 2010

Franklin Hall B Level 4 (Philadelphia Marriott Downtown)

9:00 AM

T. Galli , Institute Jacques Monod, INSERM U950, Paris, France

P. Gorwood , INSERM U894-Team1, Paris, France

B. Golse , Service de Psychiatrie de l'Enfant et de l'Adolescent, AP-HP, Paris, France

L. Robel , Service de Psychiatrie de l'Enfant et de l'Adolescent, AP-HP, Paris, France

N. Ramoz , Center of Psychiatry and Neurosciences, INSERM U894-Team1, Paris, France

Background: Vesicle-associated membrane protein 7 (VAMP7/TI-VAMP/SYBL1) with syntaxins form an active SNARE complex and it is required for exocytosis involved in neurite growth. Recently, polymorphisms of syntaxin 1A (STX1A) gene were found associated to autism, by transmission disequilibrium test (TDT) analysis of 249 AGRE trios.

Objectives: Our goal is to identify association between autism and polymorphisms of VAMP7/SYBL1 gene located on Xq28 and Yq12.

Methods: We carried out a case-control study by genotyping single nucleotide polymorphisms (SNPs) within VAMP7 gene, using TaqMan® SNP Genotyping Assays, on 84 French autistic patients, parents, and 143 healthy French controls. Distributions of alleles and genotypes were compared between patients and controls. Transmission disequilibrium test was performed in autism families.

Results: SNPs were on Hardy-Weinberg equilibrium. No significant differences of frequencies for alleles or genotypes were found between autistic patients and controls. Transmission disequilibrium test is currently under study in autism families.

Conclusions: No association between polymorphisms in VAMP7 gene was identified yet with autism in this study. Additional SNPs are needed to entirely cover the 62 kb of VAMP7/SYBL1 gene.

See more of: Human Genetics
See more of: Autism Symptoms