期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 14, 期 8, 页码 923-931出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5201644
关键词
autism; integrin beta3; serotonin; 5-HT; quantitative trait locus; platelet
资金
- NCRR NIH HHS [M01 RR00055] Funding Source: Medline
- NHLBI NIH HHS [P50 HL56399, R01 HL72414, R01 HL66533] Funding Source: Medline
- NICHD NIH HHS [P30 HD15052, U19 HD35482] Funding Source: Medline
- NIMH NIH HHS [MH64547, MH55284, MH61009, MH55135, MH52708] Funding Source: Medline
Autism is a pervasive developmental disorder affecting more males than females. Heritability estimates for autism can rise above 90%, and genes influencing the serotonin system are strong candidates for autism susceptibility genes, as drugs selectively acting on the serotonin system are some of the most effective treatments for maladaptive behaviors seen in autism. ITGB3 was recently identified as a male quantitative trait locus (QTL) for whole-blood serotonin levels in the Hutterites (P=0.0003). Here, we demonstrate associations between variation in ITGB3 and serotonin levels in two outbred samples (P=0.010 and 0.015). Lastly, we show that a coding variant of ITGB3 is associated with autism susceptibility in a large multiplex sample (P=0.00082), and that this variation has different effects in males and females (P=0.0018).
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