Replication study of Japanese cohorts supports the role of STX1A in autism susceptibility.
Autism is a pervasive developmental disorder diagnosed in early childhood. Abnormalities of serotonergic neurotransmission have been reported in autism. Serotonin transporter (5-HTT), which modulates serotonin levels, is a major therapeutic target in autism. Therefore, factors that regulate 5-HTT expression might be implicated in autism. One candidate 5-HTT-regulatory protein is the presynaptic protein, syntaxin 1A (STX1A). We examined the association of STX1A with autism in a trio association study using DNA samples from Japanese trios with autistic probands. In TDT analysis, rs69510130 (p=0.027) showed nominal associations with autism; modest haplotype association was also observed. We further compared STX1A mRNA expression between the autistic and control groups in the postmortem brain. In the anterior cingulate gyrus region, STX1A expression in the autism group was found to be significantly lower than that of the control group. Thus, we suggest a possible role of STX1A in the pathogenesis of autism.
Department of Psychiatry and Neurology, Hamamatsu University School of Medicine, Hamamatsu, Japan. nakamura@hama-med.ac.jp
Kazuhiko
K
Nakamura
Yasuhide
Y
Iwata
Ayyappan
A
Anitha
Taishi
T
Miyachi
Tomoko
T
Toyota
Satoru
S
Yamada
Masatsugu
M
Tsujii
Kenji J
KJ
Tsuchiya
Yoshimi
Y
Iwayama
Kazuo
K
Yamada
Eiji
E
Hattori
Hideo
H
Matsuzaki
Kaori
K
Matsumoto
Katsuaki
K
Suzuki
Shiro
S
Suda
Kiyokazu
K
Takebayashi
Nori
N
Takei
Hironobu
H
Ichikawa
Toshiro
T
Sugiyama
Takeo
T
Yoshikawa
Norio
N
Mori
D000293:Adolescent; D000328:Adult; D044466:Asian People; D001321:Autistic Disorder / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D001921:Brain / Q000503:physiopathology*; D002648:Child; D015331:Cohort Studies; D004198:Disease Susceptibility; D005260:Female; D005820:Genetic Testing; D006179:Gyrus Cinguli / Q000503:physiopathology*; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics / Q000502:physiology; D050827:Syntaxin 1 / Q000235:genetics* / Q000502:physiology*; D055815:Young Adult
D050486:Serotonin Plasma Membrane Transport Proteins; D050827:Syntaxin 1