A genome-wide linkage and association scan reveals novel loci for autism

被引：0

作者：

Lauren A. Weiss

Dan E. Arking

机构：

[1] Center for Human Genetic Research,Department of Psychiatry

[2] Massachusetts General Hospital and Harvard Medical School,Division of Genetics

[3] Boston,Department of Psychiatry

[4] Massachusetts 02114,Department of Child and Adolescent Psychiatry

[5] USA.,Department of Child and Adolescent Psychiatry

[6] Broad Institute of MIT and Harvard,Department of Pediatrics and Psychology

[7] Cambridge,Departments of Psychiatry

[8] Massachusetts 02142,Department of Human Genetics

[9] USA.,Psychiatry Department

[10] Center for Complex Disease Genomics,Departments of Psychology and Psychiatry

[11] McKusick-Nathans Institute of Genetic Medicine,Department of Child Psychiatry

[12] Johns Hopkins University,Division of Psychiatry

[13] Baltimore,Department of Psychiatry

[14] Maryland 21205,Department of Neurology

[15] USA.,Department of Psychiatry and Behavioural Neurosciences

[16] Institute for Juvenile Research,Academic Department of Child Psychiatry

[17] University of Illinois at Chicago,Department of Pediatrics

[18] Chicago,University Department of Child Psychiatry

[19] Illinois 60612,Department of Medicine

[20] USA.,The Hospital for Sick Children and Department of Molecular Genetics

[21] Center for Neurodegeneration and Experimental Therapeutics,Department of Pediatrics and Howard Hughes Medical Institute Carver College of Medicine

[22] University of Alabama School of Medicine,Department of Psychiatry

[23] Birmingham,Department of Biostatistics and Medicine

[24] Alabama 35294,Department of Pediatrics

[25] USA.,Department of Child and Adolescent Psychiatry

[26] Developmental Medicine Center,Department of Psychiatry

[27] Children’s Hospital Boston,Department of Medicine

[28] Boston,Department of Child and Adolescent Neurosciences

[29] Massachusetts 02115,Department of Psychiatry

[30] USA.,Department of Biology

[31] Children’s Hospital Boston and Harvard Medical School,Department of Neurology and Howard Hughes Medical Institute

[32] Boston,Department of Child Psychiatry

[33] Massachusetts 02115,Department of Neurosciences and Pediatrics

[34] USA.,Department of Neurology

[35] Special Education Organization,Department of Anatomy and Neurobiology

[36] Tehran,Department of Child Psychiatry and Department of Clinical Genetics

[37] Iran.,Medical Genetic Diagnosis Department

[38] University of Oxford,Department of Medical Genetics

[39] Warneford Hospital,Department of Molecular Medicine

[40] Headington,undefined

[41] Oxford OX3 7JX,undefined

[42] UK.,undefined

[43] Newcomen Centre,undefined

[44] Guy’s Hospital,undefined

[45] London SE1 9RT,undefined

[46] UK.,undefined

[47] Battelle Center for Mathematical Medicine,undefined

[48] The Research Institute at Nationwide Children’s Hospital and The Ohio State University,undefined

[49] Columbus,undefined

[50] Ohio 43205,undefined

来源：

Nature | 2009年 / 461卷

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学科分类号：

摘要：

Autism is a highly heritable neurodevelopmental disorder, and yet very few specific susceptibility genes have been identified to date. A genome-wide scan using half a million genome-wide SNPs (single nucleotide polymorphisms) in a common set of 1,031 multiplex autism families has now revealed significant linkage and association to autism. The linkage regions identified provide targets for rare variation screening while the discovery of a single novel association, between SEMA5A and TAS2R1 on chromosome 5p15. The expression of SEMA5A was found to be reduced in brains from autistic patients, further confirmation that it is an autism susceptibility gene.

引用

页码：802 / 808

页数：6

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