Serotonin transporter gene promoter polymorphism and autism: a family-based genetic association study in Japanese population.
Autism is now widely accepted as a biological disorder which, by and large, starts before birth. It has been shown that serotonin (5-HT) is associated with several psychological processes and hyperserotoninemia is observed in some autistic patients. The results of previous reports about family-based association studies between the serotonin transporter (5-HTT) gene promoter polymorphism and autism are controversial. In this study, an analysis using the transmission/disequilibrium test (TDT) between the 5-HTT gene promoter polymorphism and autism in 104 trios, all ethnically Japanese, showed no significant linkage disequilibrium (P=0.17). Recently, it has been reported that some haplotypes at the serotonin transporter locus may be associated with the pathogenesis of autism. Therefore, further investigations by haplotype analyses are necessary to confirm the implications of genetic variants of the serotonin transporter in the etiology of autism.
Department of Psychiatry, Course of Specialized Clinical Science, Tokai University School of Medicine, Bohseidai, Isehara, Kanagawa 259-1193, Japan.
Shinko
S
Koishi
Kenji
K
Yamamoto
Hideo
H
Matsumoto
Seiji
S
Koishi
Youichi
Y
Enseki
Akitoshi
A
Oya
Arata
A
Asakura
Yutaka
Y
Aoki
Mariko
M
Atsumi
Tomiei
T
Iga
Jyoji
J
Inomata
Hidetoshi
H
Inoko
Tsukasa
T
Sasaki
Eiji
E
Nanba
Nobumasa
N
Kato
Tetsuo
T
Ishii
Kosuke
K
Yamazaki
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism*; D001921:Brain / Q000378:metabolism* / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D012701:Serotonin / Q000378:metabolism; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
D050486:Serotonin Plasma Membrane Transport Proteins; D012701:Serotonin