G2Cdb::Allele report

Mutation type
SNP

Altered genes (1)

Gene Symbol Species Description
G00001434 RAF1 Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1

Diseases (1)

Disease Description Nervous effect
D00000177 Autism Y

Literature (1)

Pubmed - human_disease

  • Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31.

    Segurado R, Conroy J, Meally E, Fitzgerald M, Gill M and Gallagher L

    Department of Genetics, Trinity College, Dublin 2, Ireland. rsegurdo@tcd.ie

    Objective: Autism is a neurodevelopmental disorder with childhood onset and a known major genetic component. A recent study identified a highly significant association between autism and a two-single-nucleotide-polymorphism haplotype in the SLC25A12 gene, with a homozygote genotype relative risk between 2.4 and 4.8. The authors' goal was to investigate this association with autism in Irish affected child-parent trios because replication in an independent sample is essential in the validation of such potentially important findings.

    Method: Markers rs2056202 and rs2292813 were genotyped in a total of 158 trios (442 individuals). The Transmission Disequilibrium Test was used to examine these markers for association with autism.

    Results: In agreement with the recent study, the authors found significant association between autism and the C alleles of both rs2056202 and rs2292813 as well as the two-marker haplotype.

    Conclusions: These findings provide replication of the association between autism and SLC25A12.

    The American journal of psychiatry 2005;162;11;2182-4

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.