4.5 Article

Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene Is Associated With Autism

期刊

AUTISM RESEARCH
卷 1, 期 3, 页码 189-192

出版社

WILEY
DOI: 10.1002/aur.25

关键词

autism; Asperger syndrome; SLC25A12; association; SNP

资金

  1. Paivikki and Sakari Sohlberg Foundation
  2. Center of Excellence of Disease Genetics of the Academy of Finland
  3. Finnish Cultural Foundation
  4. Cure Autism Now

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Two single nucleotide polymorphisms (SNP) within Mitochondrial Aspartate/Glutamate Carrier SLC25A12 gene have recently shown to be strongly associated with autism. Here, we attempted to replicate this finding in two separate Finnish samples with autism spectrum disorders. Family-based association analysis of two SNPs, rs2056202 and rs2292813, previously shown to be associated with autism was performed in two samples with different phenotypic characteristics. The samples included 97 families with strictly defined autism and 29 extended families with Asperger syndrome (AS). We detected association at rs2292813 (FBAT, P=0.0018) in the Finnish autism sample. In, addition other family-based analysis methods supported this finding. By contrast, analysis of the AS sample yielded no evidence for association. This study shows further Support that genetic variants within SLC25A12 gene contribute to the etiology of autism.

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