What question did this study set out to answer?

To identify specific autism susceptibility genes within the previously mapped chromosome 2q24-q33 susceptibility region.

March 31, 2004American Journal of Psychiatry

Linkage and Association of the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene With Autism

View Full Paper

Ask AI

Bookmark

Authors

NRNicolás RamozUniversité Claude Bernard Lyon 1 JRJennifer ReichertMount Sinai Health System CSChristopher J. SmithGower College Swansea

Discussion

Member takes

Implication

Family-based genetic association study reveals significant linkage between SLC25A12 variants and autism, suggesting a potential role for mitochondrial transport.

Key Points

To identify specific autism susceptibility genes within the previously mapped chromosome 2q24-q33 susceptibility region.
Screened positional candidate genes for exonic and flanking sequence variants in unrelated subjects showing linkage to 2q24-q33, comparing variant frequencies between autistic and nonautistic individuals.
Genotyped two candidate single nucleotide polymorphisms (SNPs) within SLC25A12 in 411 families, performing linkage and association analyses in 197 informative families using the Transmission Disequilibrium Test and TRANSMIT.
Significant excess transmission to affected individuals was observed for SNPs rs2056202 and rs2292813, as well as their two-locus G*G haplotype.
Linkage analysis supported association with a maximal multipoint nonparametric linkage score of 1.57 and a maximal multipoint heterogeneity LOD score of 2.11.
Genotype relative risk for individuals homozygous at these risk loci was estimated between 2.4 and 4.8.

Cite This Study

Ramoz et al. (2004) studied this question.

synapsesocial.com/papers/6aa93b7e003e5934aecdc631 https://doi.org/10.1176/appi.ajp.161.4.662

View Full Paper

Ask AI

Bookmark

Implication

Family-based genetic association study reveals significant linkage between SLC25A12 variants and autism, suggesting a potential role for mitochondrial transport.

Linkage and Association of the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene With Autism

Discussion

Member takes

Implication

Key Points

Cite This Study

Linkage and Association of the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene With Autism

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider