Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism

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Abstract

Attention-deficit/hyperactivity disorder (ADHD) is the most commonly diagnosed behavioral disorder in childhood and likely represents an extreme of normal behavior. ADHD significantly impacts learning in school-age children and leads to impaired functioning throughout the life span. There is strong evidence for a genetic etiology of the disorder, although putative alleles, principally in dopamine-related pathways suggested by candidate-gene studies, have very small effect sizes. We use affected-sib-pair analysis in 203 families to localize the first major susceptibility locus for ADHD to a 12-cM region on chromosome 16p13 (maximum LOD score 4.2; P = .000005), building upon an earlier genomewide scan of this disorder. The region overlaps that highlighted in three genome scans for autism, a disorder in which inattention and hyperactivity are common, and physically maps to a 7-Mb region on 16p13. These findings suggest that variations in a gene on 16p13 may contribute to common deficits found in both ADHD and autism. © 2002 by The American Society of Human Genetics. All rights reserved.

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Smalley, S. L., Kustanovich, V., Minassian, S. L., Stone, J. L., Ogdie, M. N., McGough, J. J., … Nelson, S. F. (2002). Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism. American Journal of Human Genetics, 71(4), 959–963. https://doi.org/10.1086/342732

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