No association between the APOE gene and autism.
Autism is a neurodevelopmental disorder characterized by stereotypic and repetitive behavior and interests, together with social and communicative deficiencies. The results of several genomic screens suggest the presence of an autism susceptibility locus on chromosome 19p13.2-q13.4. The apolipoprotein E (APOE) gene on chromosome 19 encodes for a protein, apoE, whose different isoforms (E2, E3, E4) influence neuronal growth. APOE participates in lipid transport and metabolism, repair, growth, and maintenance of axons and myelin during neuronal development. The APOE protein competes with the Reelin protein for VLDL/APOER2 receptor binding. Several studies have reported evidence for an association between autism and the Reelin gene. Based on these data we tested for association between APOE and autism using family-based association methods in a data set of 322 autism families. Three promoter, one intronic, and one 3' UTR single nucleotide polymorphisms (SNPs) in the APOE gene (-491a/t, -427c/t, -219g/t, 113c/g, and 5361c/t) as well as the APOE functional polymorphism (E2, E3, E4) were examined and failed to reveal significant evidence that autism is associated with APOE.
Raiford
K L
KL
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Shao
Y
Y
Allen
I C
IC
Martin
E R
ER
Menold
M M
MM
Wright
H H
HH
Abramson
R K
RK
Worley
G
G
DeLong
G R
GR
Vance
J M
JM
Cuccaro
M L
ML
Gilbert
J R
JR
Pericak-Vance
M A
MA
D001057:Apolipoproteins E / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D000091042:Reelin Protein
D001057:Apolipoproteins E; D000091042:Reelin Protein; C000717127:RELN protein, human