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Common genetic variants on 1p13.2 associate with risk of autism.
Xia, K; Guo, H; Hu, Z; Xun, G; Zuo, L; Peng, Y; Wang, K; He, Y; Xiong, Z; Sun, L; Pan, Q; Long, Z; Zou, X; Li, X; Li, W; Xu, X; Lu, L; Liu, Y; Hu, Y; Tian, D; Long, L; Ou, J; Liu, Y; Li, X; Zhang, L; Pan, Y; Chen, J; Peng, H; Liu, Q; Luo, X; Su, W; Wu, L; Liang, D; Dai, H; Yan, X; Feng, Y; Tang, B; Li, J; Miedzybrodzka, Z; Xia, J; Zhang, Z; Luo, X; Zhang, X; St Clair, D; Zhao, J; Zhang, F.
Afiliação
  • Xia K; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
  • Guo H; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China [3] Division of Intramural Research Programs, National Institute of Mental Health, The National Institutes of Health,
  • Hu Z; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
  • Xun G; Mental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
  • Zuo L; Department of Psychiatry, Yale University, New Haven, CT, USA.
  • Peng Y; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
  • Wang K; State Key Laboratory Incubation Base of Dermatology, Anhui, China.
  • He Y; Mental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
  • Xiong Z; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
  • Sun L; State Key Laboratory Incubation Base of Dermatology, Anhui, China.
  • Pan Q; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Long Z; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Zou X; Department of Pediatrics, No. 3 Hospital of the Sun Yat-sen University, Guangdong, China.
  • Li X; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Li W; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Xu X; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Lu L; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Liu Y; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Hu Y; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Tian D; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Long L; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Ou J; Mental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
  • Liu Y; Mental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
  • Li X; Mental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
  • Zhang L; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Pan Y; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Chen J; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Peng H; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Liu Q; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Luo X; Mental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
  • Su W; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Wu L; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Liang D; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Dai H; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Yan X; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] The Xiangya Hospital, Central South University, Hunan, China.
  • Feng Y; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] The Xiangya Hospital, Central South University, Hunan, China.
  • Tang B; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] The Xiangya Hospital, Central South University, Hunan, China.
  • Li J; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] School of Biological Science and Technology, Central South University, Hunan, China.
  • Miedzybrodzka Z; University of Aberdeen, Royal Cornhill Hospital, Aberdeen, UK.
  • Xia J; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Zhang Z; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Luo X; Department of Psychiatry, Yale University, New Haven, CT, USA.
  • Zhang X; State Key Laboratory Incubation Base of Dermatology, Anhui, China.
  • St Clair D; 1] Division of Intramural Research Programs, National Institute of Mental Health, The National Institutes of Health, Bethesda, MD, USA [2] University of Aberdeen, Royal Cornhill Hospital, Aberdeen, UK.
  • Zhao J; 1] State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China [2] Mental Health Institute, The Second Xiangya Hospital, Central South University, Hunan, China.
  • Zhang F; 1] Division of Intramural Research Programs, National Institute of Mental Health, The National Institutes of Health, Bethesda, MD, USA [2] The Lieber Institute for Brain Development, Johns Hopkins University Medical Campus, Baltimore, MD, USA.
Mol Psychiatry ; 19(11): 1212-9, 2014 Nov.
Article em En | MEDLINE | ID: mdl-24189344
ABSTRACT
Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Fatores de Transcrição / Cromossomos Humanos Par 1 / Proteínas de Ligação a RNA / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Proteínas de Ligação a DNA / GTP Fosfo-Hidrolases / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Systematic_reviews Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Mol Psychiatry Assunto da revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: China
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Fatores de Transcrição / Cromossomos Humanos Par 1 / Proteínas de Ligação a RNA / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Proteínas de Ligação a DNA / GTP Fosfo-Hidrolases / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Systematic_reviews Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Mol Psychiatry Assunto da revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: China