Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism.
Evidence for a genetic association between autism and two single nucleotide polymorphisms (SNPs), rs2056202 and rs2292813, in the mitochondrial aspartate/glutamate carrier (SLC25A12) gene led us to ask whether any of the four previously identified familial traits in autism spectrum disorders (ASD) varied by these SNPs. In 355 ASD cases from 170 sibships we examined levels of the four traits in these SNPs using ANCOVA models. The primary models selected unrelated affected cases and used age and sex as covariates. An ancillary set of models used all affected siblings and included "sibship" as a random effects independent variable. We found significantly lower levels of routines and rituals associated with the presence of the less frequent A allele in rs2056206. No other significant differences were observed. The rs2056202 polymorphism may be associated with levels of routines and rituals in autism and related disorders.
Silverman
Jeremy M
JM
Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA. jeremy.silverman@mssm.edu
Buxbaum
Joseph D
JD
Ramoz
Nicolas
N
Schmeidler
James
J
Reichenberg
Abraham
A
Hollander
Eric
E
Angelo
Gary
G
Smith
Christopher J
CJ
Kryzak
Lauren A
LA
D001321:Autistic Disorder / Q000235:genetics* / Q000503:physiopathology*; D005838:Genotype; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013239:Stereotyped Behavior
D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C114606:SLC25A12 protein, human