期刊
SCIENCE TRANSLATIONAL MEDICINE
卷 2, 期 56, 页码 -出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/scitranslmed.3001344
关键词
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资金
- William M. and Linda R. Dietel Philanthropic Fund at the Northern Piedmont Community Foundation
- Northstar Fund
- National Institute of Child Health and Human Development [P01 HD035470, P50 HD055784, R01 HD065280-01]
- National Alliance for Autism Research
- Autism Speaks
- Whitehall Foundation
- Training Program in Neurobehavioral Genetics [T32 MH073526]
- National Research Service Award predoctoral fellowship [F31 MH079645]
- National Center for Research Resources (NCRR), NIH [RR12169, RR13642, RR00865, UL1 RR025774]
- NIH [R01-hd065280, P50-hd055784-03s1]
Genetic studies are rapidly identifying variants that shape risk for disorders of human cognition, but the question of how such variants predispose to neuropsychiatric disease remains. Noninvasive human brain imaging allows assessment of the brain in vivo, and the combination of genetics and imaging phenotypes remains one of the only ways to explore functional genotype-phenotype associations in human brain. Common variants in contactin-associated protein-like 2 (CNTNAP2), a neurexin superfamily member, have been associated with several allied neurodevelopmental disorders, including autism and specific language impairment, and CNTNAP2 is highly expressed in frontal lobe circuits in the developing human brain. Using functional neuroimaging, we have demonstrated a relationship between frontal lobar connectivity and common genetic variants in CNTNAP2. These data provide a mechanistic link between specific genetic risk for neurodevelopmental disorders and empirical data implicating dysfunction of long-range connections within the frontal lobe in autism. The convergence between genetic findings and cognitive-behavioral models of autism provides evidence that genetic variation at CNTNAP2 predisposes to diseases such as autism in part through modulation of frontal lobe connectivity.
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