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

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  • Lauren A. Weiss

    (Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
    Present addresses: Department of Psychiatry, Institute for Human Genetics, Center for Neurobiology and Psychiatry, UCSF, San Francisco, California, USA (L.A.W.); Department of Molecular Biology, Cell Biology and Biochemistry, and Institute for Brain Science, Brown University, Providence, Rhode Island, USA (E.M.M.).)

  • Dan E. Arking

    (Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA.)

Abstract

Scanning for links to autism 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.

Suggested Citation

  • Lauren A. Weiss & Dan E. Arking, 2009. "A genome-wide linkage and association scan reveals novel loci for autism," Nature, Nature, vol. 461(7265), pages 802-808, October.
    • Handle: RePEc:nat:nature:v:461:y:2009:i:7265:d:10.1038_nature08490
    DOI: 10.1038/nature08490
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    Citations

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    Cited by:

    1. Tetsushi Sadakata & Yo Shinoda & Akira Sato & Hirotoshi Iguchi & Chiaki Ishii & Makoto Matsuo & Ryosuke Yamaga & Teiichi Furuichi, 2013. "Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants," IJERPH, MDPI, vol. 10(12), pages 1-19, November.
    2. Noor B. Almandil & Deem N. Alkuroud & Sayed AbdulAzeez & Abdulla AlSulaiman & Abdelhamid Elaissari & J. Francis Borgio, 2019. "Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies," IJERPH, MDPI, vol. 16(4), pages 1-16, February.
    3. Srirangan Sampath & Shambu Bhat & Simone Gupta & Ashley O’Connor & Andrew B West & Dan E Arking & Aravinda Chakravarti, 2013. "Defining the Contribution of CNTNAP2 to Autism Susceptibility," PLOS ONE, Public Library of Science, vol. 8(10), pages 1-1, October.
    4. Zohreh Talebizadeh & Dan E Arking & Valerie W Hu, 2013. "A Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism," PLOS ONE, Public Library of Science, vol. 8(6), pages 1-8, June.
    5. Gergely N. Nagy & Xiao-Feng Zhao & Richard Karlsson & Karen Wang & Ramona Duman & Karl Harlos & Kamel El Omari & Armin Wagner & Henrik Clausen & Rebecca L. Miller & Roman J. Giger & E. Yvonne Jones, 2024. "Structure and function of Semaphorin-5A glycosaminoglycan interactions," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
    6. Pallav Bhatnagar & Emily Barron-Casella & Christopher J Bean & Jacqueline N Milton & Clinton T Baldwin & Martin H Steinberg & Michael DeBaun & James F Casella & Dan E Arking, 2013. "Genome-Wide Meta-Analysis of Systolic Blood Pressure in Children with Sickle Cell Disease," PLOS ONE, Public Library of Science, vol. 8(9), pages 1-1, September.

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