Three autism candidate genes: a synthesis of human genetic analysis with other disciplines

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Abstract
Autism is a particularly complex disorder when considered from virtually any methodological framework, including the perspective of human genetics. We first present a review of the genetic analysis principles relevant for discussing autism genetics research. From this body of work we highlight results from three candidate genes, REELIN (RELN), SEROTONIN TRANSPORTER (5HTT), and ENGRAILED 2 (EN2) and discuss the relevant neuroscience, molecular genetics, and statistical results that suggest involvement of these genes in autism susceptibility. As will be shown, the statistical results from genetic analysis, when considered alone, are in apparent conflict across research groups. We use these three candidate genes to illustrate different problems in synthesizing results from non‐overlapping research groups examining the same problem.However, when basic genetic principles and results from other scientific disciplines are incorporated into a unified theoretical framework, at least some of the difficulties with interpreting results can be understood and potentially overcome as more data becomes available to the field of autism research. Integrating results from several scientific frameworks provides new hypotheses and alternative data collection strategies for future work.
Funding Information
  • National Institute of Mental Health (R01‐MH70366)
  • March of Dimes Foundation (12‐FY02‐110)
  • March of Dimes Foundation (5‐FY00‐582)
  • Whitehall Foundation (2001‐12‐54‐APL)