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Association study of the 15q11‐q13 maternal expression domain in Japanese autistic patients
Author(s) -
Kato Chieko,
Tochigi Mamoru,
Ohashi Jun,
Koishi Shinko,
Kawakubo Yuki,
Yamamoto Kenji,
Matsumoto Hideo,
Hashimoto Ohiko,
Kim SooYung,
Watanabe Keiichiro,
Kano Yukiko,
Nanba Eiji,
Kato Nobumasa,
Sasaki Tsukasa
Publication year - 2008
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30690
Subject(s) - autism , genetics , haplotype , single nucleotide polymorphism , biology , genetic association , heritability of autism , angelman syndrome , population , genotype , gene , psychology , medicine , developmental psychology , environmental health , phenotype
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. © 2008 Wiley‐Liss, Inc.