4.8 Article

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

期刊

NATURE GENETICS
卷 48, 期 5, 页码 552-+

出版社

NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3529

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资金

  1. Wellcome Trust [102215/2/13/2]
  2. Medical Research Council Integrative Epidemiology Unit [MC_UU_12013/1-9]
  3. National Institute of Mental Health [1K01MH099286-01A1, 5U01MH094432-02]
  4. Brain Behavior Research Foundation (NARSAD) [22379]
  5. Lundbeck Foundation
  6. universities and university hospital of Aarhus
  7. universities and university hospital of Copenhagen
  8. Stanley Foundation
  9. Simons Foundation [SFARI 311789]
  10. Lundbeck Foundation [R155-2014-1724] Funding Source: researchfish
  11. Medical Research Council [MC_UU_12013/1, MC_PC_15018, MC_UU_12013/4] Funding Source: researchfish
  12. MRC [MC_UU_12013/4, MC_UU_12013/1] Funding Source: UKRI

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Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of this risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortium and population-based resources (total n > 38,000), we find genome-wide genetic links between ASDs and typical variation in social behavior and adaptive functioning. This finding is evidenced through both LD score correlation and de novo variant analysis, indicating that multiple types of genetic risk for ASDs influence a continuum of behavioral and developmental traits, the severe tail of which can result in diagnosis with an ASD or other neuropsychiatric disorder. A continuum model should inform the design and interpretation of studies of neuropsychiatric disease biology.

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