title: Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients.
abstract: Chromosome 15q11-q13 has been a focus of genetic studies of autism susceptibility, because cytogenetic abnormalities are frequently observed in this region in autistic patients. An imprinted, maternally expressed gene within the region may have a role in autistic symptomatology. In the present study, we investigated the association between autism and the maternal expression domain (MED) in the region, containing the UBE3A and ATP10C genes, and the upstream imprinting center (IC), which mediates coordinate control of imprinted expression throughout the region. We analyzed 41 single nucleotide polymorphisms (SNPs) in 166 patients with autism and 416 controls from a Japanese population. As a result, a statistically significant difference after correction for multiple testing was observed between the patients and controls in the genotypic distribution of SNP rs7164989 (SNP8 in this study) located in SNRPN, whose promoter corresponds to the IC (P = 0.018, corrected for multiple testing). In the analysis of a four-marker haplotype located in ATP10C, a statistically significant difference after correction for multiple testing was observed in the frequency of one haplotype between male patients and controls (permutation P = 0.033, corrected for multiple testing). Thus, the present study may suggest the association between autism and the MED or the upstream IC in chromosome 15q11-q13 in the Japanese population.
authors.affiliation: Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Bunkyo, Tokyo, Japan.
authors.forename: Chieko
authors.initials: C
authors.lastname: Kato
authors.forename: Mamoru
authors.initials: M
authors.lastname: Tochigi
authors.forename: Jun
authors.initials: J
authors.lastname: Ohashi
authors.forename: Shinko
authors.initials: S
authors.lastname: Koishi
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kawakubo
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Hideo
authors.initials: H
authors.lastname: Matsumoto
authors.forename: Ohiko
authors.initials: O
authors.lastname: Hashimoto
authors.forename: Soo-Yung
authors.initials: SY
authors.lastname: Kim
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Watanabe
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kano
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.forename: Nobumasa
authors.initials: N
authors.lastname: Kato
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Sasaki
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002884:Chromosomes, Human, Pair 15; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D018392:Genomic Imprinting; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009035:Mothers; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors
chemical_list: D026901:Membrane Transport Proteins; D000251:Adenosine Triphosphatases; C426648:ATP10A protein, human