TY - JOUR
T1 - Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism
AU - Silverman, Jeremy M.
AU - Buxbaum, Joseph D.
AU - Ramoz, Nicolas
AU - Schmeidler, James
AU - Reichenberg, Abraham
AU - Hollander, Eric
AU - Angelo, Gary
AU - Smith, Christopher J.
AU - Kryzak, Lauren A.
PY - 2008/4/5
Y1 - 2008/4/5
N2 - 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.
AB - 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.
KW - Autism spectrum disorders
KW - Familial traits
KW - Repetitive behaviors
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U2 - 10.1002/ajmg.b.30614
DO - 10.1002/ajmg.b.30614
M3 - Article
C2 - 17894412
AN - SCOPUS:42149106224
SN - 1552-4841
VL - 147
SP - 408
EP - 410
JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
IS - 3
ER -
