title: Association of transcription factor gene LMX1B with autism.
abstract: Multiple lines of evidence suggest a serotoninergic dysfunction in autism. The role of LMX1B in the development and maintenance of serotoninergic neurons is well known. In order to examine the role, if any, of LMX1B with autism pathophysiology, a trio-based SNP association study using 252 family samples from the AGRE was performed. Using pair-wise tagging method, 24 SNPs were selected from the HapMap data, based on their location and minor allele frequency. Two SNPs (rs10732392 and rs12336217) showed moderate association with autism with p values 0.018 and 0.022 respectively in transmission disequilibrium test. The haplotype AGCGTG also showed significant association (p = 0.008). Further, LMX1B mRNA expressions were studied in the postmortem brain tissues of autism subjects and healthy controls samples. LMX1B transcripts was found to be significantly lower in the anterior cingulate gyrus region of autism patients compared with controls (p = 0.049). Our study suggests a possible role of LMX1B in the pathophysiology of autism. Based on previous reports, it is likely to be mediated through a seretoninergic mechanism. This is the first report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report.
authors: Department of Psychiatry and Neurology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Ismail
authors: I
authors: Thanseem
authors: Kazuhiko
authors: K
authors: Nakamura
authors: Ayyappan
authors: A
authors: Anitha
authors: Shiro
authors: S
authors: Suda
authors: Kazuo
authors: K
authors: Yamada
authors: Yoshimi
authors: Y
authors: Iwayama
authors: Tomoko
authors: T
authors: Toyota
authors: Masatsugu
authors: M
authors: Tsujii
authors: Yasuhide
authors: Y
authors: Iwata
authors: Katsuaki
authors: K
authors: Suzuki
authors: Hideo
authors: H
authors: Matsuzaki
authors: Keiko
authors: K
authors: Iwata
authors: Toshiro
authors: T
authors: Sugiyama
authors: Takeo
authors: T
authors: Yoshikawa
authors: Norio
authors: N
authors: Mori
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006179:Gyrus Cinguli / Q000378:metabolism; D006801:Humans; D066298:In Vitro Techniques; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors