Tian Zhang1,2,3,4, Jishui Zhang5,6, Ziqi Wang1,2,3,4, Meixiang Jia1,2,3,4, Tianlan Lu1,2,3,4, Han Wang1,2,3,4, Weihua Yue1,2,3,4, Dai Zhang1,2,3,4,7,8, Jun Li1,2,3,4, Lifang Wang1,2,3,4. 1. Peking University Sixth Hospital, Beijing, 100191, China. 2. Peking University Institute of Mental Health, Beijing, 100191, China. 3. NHC Key Laboratory of Mental Health (Peking University), Beijing, 100191, China. 4. National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing, 100191, China. 5. Department of Mental Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China. 6. National Center for Children's Health, Beijing, 100045, China. 7. Peking-Tsinghua Center for Life Sciences, Peking University, Beijing, 100871, China. 8. PKU-IDG/McGovern Institute for Brain Research, Peking University, Beijing, 100871, China.
Abstract
Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. CNTNAP2 was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Some studies indicated the association of CNTNAP2 with ASD, while others reported no association. Given the inconsistent results of the previous studies, we performed a family-based association study between 9 single-nucleotide polymorphisms (SNPs) of CNTNAP2 and autism in 640 autistic trios in the Chinese Han population. Then, an updated meta-analysis, combined with the data from Psychiatric Genomics Consortium (iPSYCH-PGC ASD, 2017) and available association studies, was conducted. No SNPs were significantly associated with autism in the Chinese Han population. In the meta-analysis, the two frequently reported SNPs (rs2710102 and rs7794745) showed no significant association with ASD. Therefore, CNTNAP2 polymorphisms might not be associated with autism. Autism Research 2019, 12: 553-561.
Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. CNTNAP2 was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Some studies indicated the association of CNTNAP2 with ASD, while others reported no association. Given the inconsistent results of the previous studies, we performed a family-based association study between 9 single-nucleotide polymorphisms (SNPs) of CNTNAP2 and autism in 640 autistic trios in the Chinese Han population. Then, an updated meta-analysis, combined with the data from Psychiatric Genomics Consortium (iPSYCH-PGC ASD, 2017) and available association studies, was conducted. No SNPs were significantly associated with autism in the Chinese Han population. In the meta-analysis, the two frequently reported SNPs (rs2710102 and rs7794745) showed no significant association with ASD. Therefore, CNTNAP2 polymorphisms might not be associated with autism. Autism Research 2019, 12: 553-561.
Authors: Jinhee Lee; Min Ji Son; Chei Yun Son; Gwang Hun Jeong; Keum Hwa Lee; Kwang Seob Lee; Younhee Ko; Jong Yeob Kim; Jun Young Lee; Joaquim Radua; Michael Eisenhut; Florence Gressier; Ai Koyanagi; Brendon Stubbs; Marco Solmi; Theodor B Rais; Andreas Kronbichler; Elena Dragioti; Daniel Fernando Pereira Vasconcelos; Felipe Rodolfo Pereira da Silva; Kalthoum Tizaoui; André Russowsky Brunoni; Andre F Carvalho; Sarah Cargnin; Salvatore Terrazzino; Andrew Stickley; Lee Smith; Trevor Thompson; Jae Il Shin; Paolo Fusar-Poli Journal: Brain Sci Date: 2020-09-30