Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations / Xiaoxi LIU in Autism Research, 9-3 (March 2016)  

Public ISBD [article]  inAutism Research > 9-3 (March 2016) . - p.340-349 Titre : Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations Type de document : Texte imprimé et/ou numérique Auteurs : Xiaoxi LIU, Auteur ; Takafumi SHIMADA, Auteur ; Takeshi OTOWA, Auteur ; Yu-Yu WU, Auteur ; Yoshiya KAWAMURA, Auteur ; Mamoru TOCHIGI, Auteur ; Yasuhide IWATA, Auteur ; Tadashi UMEKAGE, Auteur ; Tomoko TOYOTA, Auteur ; Motoko MAEKAWA, Auteur ; Yoshimi IWAYAMA, Auteur ; Katsuaki SUZUKI, Auteur ; Chihiro KAKIUCHI, Auteur ; Hitoshi KUWABARA, Auteur ; Yukiko KANO, Auteur ; Hisami NISHIDA, Auteur ; Toshiro SUGIYAMA, Auteur ; Nobumasa KATO, Auteur ; Chia-Hsiang CHEN, Auteur ; Norio MORI, Auteur ; Kazuo YAMADA, Auteur ; Takeo YOSHIKAWA, Auteur ; Kiyoto KASAI, Auteur ; Katsushi TOKUNAGA, Auteur ; Tsukasa SASAKI, Auteur ; Susan Shur-Fen GAU, Auteur Article en page(s) : p.340-349 Langues : Anglais (eng) Mots-clés : autism  autism spectrum disorder  genome-wide association study  genetics  common variation Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is a heterogeneous neurodevelopmental disorder with strong genetic basis. To identify common genetic variations conferring the risk of ASD, we performed a two-stage genome-wide association study using ASD family and healthy control samples obtained from East Asian populations. A total of 166 ASD families (n?=?500) and 642 healthy controls from the Japanese population were used as the discovery cohort. Approximately 900,000 single nucleotide polymorphisms (SNPs) were genotyped using Affymetrix Genome-Wide Human SNP array 6.0 chips. In the replication stage, 205 Japanese ASD cases and 184 healthy controls, as well as 418 Chinese Han trios (n?=?1,254), were genotyped by TaqMan platform. Case–control analysis, family based association test, and transmission/disequilibrium test (TDT) were then conducted to test the association. In the discovery stage, significant associations were suggested for 14 loci, including 5 known ASD candidate genes: GPC6, JARID2, YTHDC2, CNTN4, and CSMD1. In addition, significant associations were identified for several novel genes with intriguing functions, such as JPH3, PTPRD, CUX1, and RIT2. After a meta-analysis combining the Japanese replication samples, the strongest signal was found at rs16976358 (P?=?6.04 × 10?7), which is located near the RIT2 gene. In summary, our results provide independent support to known ASD candidate genes and highlight a number of novel genes warranted to be further investigated in a larger sample set in an effort to improve our understanding of the genetic basis of ASD. Autism Res 2016, 9: 340–349. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1536 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=285 [article] Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations [Texte imprimé et/ou numérique] / Xiaoxi LIU, Auteur ; Takafumi SHIMADA, Auteur ; Takeshi OTOWA, Auteur ; Yu-Yu WU, Auteur ; Yoshiya KAWAMURA, Auteur ; Mamoru TOCHIGI, Auteur ; Yasuhide IWATA, Auteur ; Tadashi UMEKAGE, Auteur ; Tomoko TOYOTA, Auteur ; Motoko MAEKAWA, Auteur ; Yoshimi IWAYAMA, Auteur ; Katsuaki SUZUKI, Auteur ; Chihiro KAKIUCHI, Auteur ; Hitoshi KUWABARA, Auteur ; Yukiko KANO, Auteur ; Hisami NISHIDA, Auteur ; Toshiro SUGIYAMA, Auteur ; Nobumasa KATO, Auteur ; Chia-Hsiang CHEN, Auteur ; Norio MORI, Auteur ; Kazuo YAMADA, Auteur ; Takeo YOSHIKAWA, Auteur ; Kiyoto KASAI, Auteur ; Katsushi TOKUNAGA, Auteur ; Tsukasa SASAKI, Auteur ; Susan Shur-Fen GAU, Auteur . - p.340-349. Langues : Anglais (eng) in Autism Research > 9-3 (March 2016) . - p.340-349 Mots-clés : autism  autism spectrum disorder  genome-wide association study  genetics  common variation Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is a heterogeneous neurodevelopmental disorder with strong genetic basis. To identify common genetic variations conferring the risk of ASD, we performed a two-stage genome-wide association study using ASD family and healthy control samples obtained from East Asian populations. A total of 166 ASD families (n?=?500) and 642 healthy controls from the Japanese population were used as the discovery cohort. Approximately 900,000 single nucleotide polymorphisms (SNPs) were genotyped using Affymetrix Genome-Wide Human SNP array 6.0 chips. In the replication stage, 205 Japanese ASD cases and 184 healthy controls, as well as 418 Chinese Han trios (n?=?1,254), were genotyped by TaqMan platform. Case–control analysis, family based association test, and transmission/disequilibrium test (TDT) were then conducted to test the association. In the discovery stage, significant associations were suggested for 14 loci, including 5 known ASD candidate genes: GPC6, JARID2, YTHDC2, CNTN4, and CSMD1. In addition, significant associations were identified for several novel genes with intriguing functions, such as JPH3, PTPRD, CUX1, and RIT2. After a meta-analysis combining the Japanese replication samples, the strongest signal was found at rs16976358 (P?=?6.04 × 10?7), which is located near the RIT2 gene. In summary, our results provide independent support to known ASD candidate genes and highlight a number of novel genes warranted to be further investigated in a larger sample set in an effort to improve our understanding of the genetic basis of ASD. Autism Res 2016, 9: 340–349. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1536 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=285

Parental age and assisted reproductive technology in autism spectrum disorders, attention deficit hyperactivity disorder, and Tourette syndrome in a Japanese population / Takafumi SHIMADA in Research in Autism Spectrum Disorders, 6-1 (January-March 2012)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 6-1 (January-March 2012) . - p.500-507 Titre : Parental age and assisted reproductive technology in autism spectrum disorders, attention deficit hyperactivity disorder, and Tourette syndrome in a Japanese population Type de document : Texte imprimé et/ou numérique Auteurs : Takafumi SHIMADA, Auteur ; Atsushi KITAMOTO, Auteur ; Ayako TODOKORO, Auteur ; Ayaka ISHII-TAKAHASHI, Auteur ; Hitoshi KAWAMURA, Auteur ; Soo-Yung KIM, Auteur ; Kei-ichiro WATANABE, Auteur ; Iwao MINOWA, Auteur ; Toshikazu SOMEYA, Auteur ; Hiroshi OHTSU, Auteur ; Yutaka OSUGA, Auteur ; Yukiko KANO, Auteur ; Kiyoto KASAI, Auteur ; Nobumasa KATO, Auteur ; Tsukasa SASAKI, Auteur Année de publication : 2012 Article en page(s) : p.500-507 Langues : Anglais (eng) Mots-clés : Autism  Attention deficit hyperactivity disorder  Tourette syndrome  Parental age  Assisted reproductive technology  Japanese population Index. décimale : PER Périodiques Résumé : We investigated whether advanced parental age and assisted reproductive technology (ART) are risk factors in autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS). Clinical charts of Japanese outpatients with ASD (n = 552), ADHD (n = 87), and TS (n = 123) were reviewed. Parental age of individuals with ASD, ADHD, or TS was compared with parental age in the general population (GP) of Tokyo after adjusting for year of birth. Paternal and maternal ages were significantly higher in persons with ASD and ADHD, but not those with TS. In final steps of stepwise logistic regression analysis, both maternal and paternal age were associated with ASD after controlling for the other parent's age, gender, and birth order. In cases where the presence or absence of ART could be ascertained (ASD n = 467; ADHD n = 64; TS n = 83), the rate of ART in cases of persons with ASD (4.5%) was 1.8 times the frequency expected in the GP, while ART was not present in cases of persons with ADHD and TS. These preliminary results remain tentative pending replication with larger, community-based samples. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.07.010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=146 [article] Parental age and assisted reproductive technology in autism spectrum disorders, attention deficit hyperactivity disorder, and Tourette syndrome in a Japanese population [Texte imprimé et/ou numérique] / Takafumi SHIMADA, Auteur ; Atsushi KITAMOTO, Auteur ; Ayako TODOKORO, Auteur ; Ayaka ISHII-TAKAHASHI, Auteur ; Hitoshi KAWAMURA, Auteur ; Soo-Yung KIM, Auteur ; Kei-ichiro WATANABE, Auteur ; Iwao MINOWA, Auteur ; Toshikazu SOMEYA, Auteur ; Hiroshi OHTSU, Auteur ; Yutaka OSUGA, Auteur ; Yukiko KANO, Auteur ; Kiyoto KASAI, Auteur ; Nobumasa KATO, Auteur ; Tsukasa SASAKI, Auteur . - 2012 . - p.500-507. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 6-1 (January-March 2012) . - p.500-507 Mots-clés : Autism  Attention deficit hyperactivity disorder  Tourette syndrome  Parental age  Assisted reproductive technology  Japanese population Index. décimale : PER Périodiques Résumé : We investigated whether advanced parental age and assisted reproductive technology (ART) are risk factors in autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS). Clinical charts of Japanese outpatients with ASD (n = 552), ADHD (n = 87), and TS (n = 123) were reviewed. Parental age of individuals with ASD, ADHD, or TS was compared with parental age in the general population (GP) of Tokyo after adjusting for year of birth. Paternal and maternal ages were significantly higher in persons with ASD and ADHD, but not those with TS. In final steps of stepwise logistic regression analysis, both maternal and paternal age were associated with ASD after controlling for the other parent's age, gender, and birth order. In cases where the presence or absence of ART could be ascertained (ASD n = 467; ADHD n = 64; TS n = 83), the rate of ART in cases of persons with ASD (4.5%) was 1.8 times the frequency expected in the GP, while ART was not present in cases of persons with ADHD and TS. These preliminary results remain tentative pending replication with larger, community-based samples. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.07.010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=146

Psychometric properties of the Repetitive Behavior Scale-Revised for individuals with autism spectrum disorder in Japan / Naoko INADA in Research in Autism Spectrum Disorders, 15-16 (July 2015)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 15-16 (July 2015) . - p.60-68 Titre : Psychometric properties of the Repetitive Behavior Scale-Revised for individuals with autism spectrum disorder in Japan Type de document : Texte imprimé et/ou numérique Auteurs : Naoko INADA, Auteur ; Hiroyuki ITO, Auteur ; Kazuhiro YASUNAGA, Auteur ; Miho KURODA, Auteur ; Ryoichiro IWANAGA, Auteur ; Taku HAGIWARA, Auteur ; Iori TANI, Auteur ; Ryoji YUKIHIRO, Auteur ; Tokio UCHIYAMA, Auteur ; Kei OGASAHARA, Auteur ; Koichi HARA, Auteur ; Masahiko INOUE, Auteur ; Takashi MURAKAMI, Auteur ; Fumio SOMEKI, Auteur ; Kazuhiko NAKAMURA, Auteur ; Toshiro SUGIYAMA, Auteur ; Hiroyuki UCHIDA, Auteur ; Hironobu ICHIKAWA, Auteur ; Yuki KAWAKUBO, Auteur ; Yukiko KANO, Auteur ; Masatsugu TSUJII, Auteur Article en page(s) : p.60-68 Langues : Anglais (eng) Mots-clés : Restricted and repetitive behaviors  Autism spectrum disorder  Repetitive Behavior Scale-Revised Japanese Version  Reliability  Validity Index. décimale : PER Périodiques Résumé : Restricted and repetitive behaviors (RRBs) constitute a core symptom of autism spectrum disorder (ASD). The Repetitive Behavior Scale-Revised (RBS-R) is a widely used questionnaire administered by parents or caregivers to assess RRBs in individuals with ASD. This study evaluated the psychometric properties of the RBS-R Japanese Version (RBS-R-J). The ASD and non-ASD groups comprised 274 and 36 participants, respectively. We examined corrected item-total correlation, Cronbach's alpha, and RBS-R-J scores of different diagnostic groups, as well as correlations between RBS-R-J scores and intelligence quotient (IQ), autistic symptoms, adaptive/maladaptive functioning, aberrant behaviors, and sensory processing. All items showed moderate corrected item-total correlations. Cronbach's alpha coefficient was .93. We found significant differences in the mean RBS-R-J scores of the low-functioning ASD group and the intellectual disabilities group, and of low-functioning and high-functioning ASD groups. RBS-R-J scores negatively correlated with IQ and scores on the Sensory Profile (Japanese version) and Adaptive Behavior Composite of the Maladaptive Behavior Index of the Vineland Adaptive Behavior Scales-Second Edition (VABS-II; Japanese version), but positively correlated with scores on the peak and current symptoms subscales of the Pervasive Developmental Disorders Autism Society Japan Rating Scale, the VABS-II, and the Aberrant Behavior Checklist-Community (Japanese version). From these results, we conclude that RBS-R-J showed good reliability, diagnostic validity, and convergent validity, indicating that it is a reliable, valid instrument for use among ASD individuals in clinical and research settings. En ligne : http://dx.doi.org/10.1016/j.rasd.2015.01.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=261 [article] Psychometric properties of the Repetitive Behavior Scale-Revised for individuals with autism spectrum disorder in Japan [Texte imprimé et/ou numérique] / Naoko INADA, Auteur ; Hiroyuki ITO, Auteur ; Kazuhiro YASUNAGA, Auteur ; Miho KURODA, Auteur ; Ryoichiro IWANAGA, Auteur ; Taku HAGIWARA, Auteur ; Iori TANI, Auteur ; Ryoji YUKIHIRO, Auteur ; Tokio UCHIYAMA, Auteur ; Kei OGASAHARA, Auteur ; Koichi HARA, Auteur ; Masahiko INOUE, Auteur ; Takashi MURAKAMI, Auteur ; Fumio SOMEKI, Auteur ; Kazuhiko NAKAMURA, Auteur ; Toshiro SUGIYAMA, Auteur ; Hiroyuki UCHIDA, Auteur ; Hironobu ICHIKAWA, Auteur ; Yuki KAWAKUBO, Auteur ; Yukiko KANO, Auteur ; Masatsugu TSUJII, Auteur . - p.60-68. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 15-16 (July 2015) . - p.60-68 Mots-clés : Restricted and repetitive behaviors  Autism spectrum disorder  Repetitive Behavior Scale-Revised Japanese Version  Reliability  Validity Index. décimale : PER Périodiques Résumé : Restricted and repetitive behaviors (RRBs) constitute a core symptom of autism spectrum disorder (ASD). The Repetitive Behavior Scale-Revised (RBS-R) is a widely used questionnaire administered by parents or caregivers to assess RRBs in individuals with ASD. This study evaluated the psychometric properties of the RBS-R Japanese Version (RBS-R-J). The ASD and non-ASD groups comprised 274 and 36 participants, respectively. We examined corrected item-total correlation, Cronbach's alpha, and RBS-R-J scores of different diagnostic groups, as well as correlations between RBS-R-J scores and intelligence quotient (IQ), autistic symptoms, adaptive/maladaptive functioning, aberrant behaviors, and sensory processing. All items showed moderate corrected item-total correlations. Cronbach's alpha coefficient was .93. We found significant differences in the mean RBS-R-J scores of the low-functioning ASD group and the intellectual disabilities group, and of low-functioning and high-functioning ASD groups. RBS-R-J scores negatively correlated with IQ and scores on the Sensory Profile (Japanese version) and Adaptive Behavior Composite of the Maladaptive Behavior Index of the Vineland Adaptive Behavior Scales-Second Edition (VABS-II; Japanese version), but positively correlated with scores on the peak and current symptoms subscales of the Pervasive Developmental Disorders Autism Society Japan Rating Scale, the VABS-II, and the Aberrant Behavior Checklist-Community (Japanese version). From these results, we conclude that RBS-R-J showed good reliability, diagnostic validity, and convergent validity, indicating that it is a reliable, valid instrument for use among ASD individuals in clinical and research settings. En ligne : http://dx.doi.org/10.1016/j.rasd.2015.01.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=261

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