[article]
| Titre : |
Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations |
| Type de document : |
texte imprimé |
| 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 |
in Autism Research > 9-3 (March 2016) . - p.340-349
[article] Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations [texte imprimé] / 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 |
|  |
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