| GeneLibs

题目:: Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.
作者:: Liu(Xiaoxi),Shimada(Takafumi),Otowa(Takeshi),Wu(Yu-Yu),Kawamura(Yoshiya),Tochigi(Mamoru),Iwata(Yasuhide),Umekage(Tadashi),Toyota(Tomoko),Maekawa(Motoko),Iwayama(Yoshimi),Suzuki(Katsuaki),Kakiuchi(Chihiro),Kuwabara(Hitoshi),Kano(Yukiko),Nishida(Hisami),Sugiyama(Toshiro),Kato(Nobumasa),Chen(Chia-Hsiang),Mori(Norio),Yamada(Kazuo),Yoshikawa(Takeo),Kasai(Kiyoto),Tokunaga(Katsushi),Sasaki(Tsukasa),Gau(Susan Shur-Fen)
状态:: 发布时间2016-03-21 , 更新时间 2016-03-21
期刊:: Autism Res
摘要:: 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.
语言:: eng
DOI:: 10.1002/aur.1536

文献库文献相关信息

DataTable pData

联系方式

微信公众号

文献库 文献相关信息

DataTable pData

联系方式

微信公众号

文献库文献相关信息