James Sutcliffe
Last active: 2/20/2014

Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism.

Cross S, Kim SJ, Weiss LA, Delahanty RJ, Sutcliffe JS, Leventhal BL, Cook EH, Veenstra-Vanderweele J
Neuropsychopharmacology. 2008 33 (2): 353-60

PMID: 17406648 · PMCID: PMC2739682 · DOI:10.1038/sj.npp.1301406

Elevated platelet serotonin (5-hydroxytryptamine, 5-HT) is found in a subset of children with autism and in some of their first-degree relatives. Indices of the platelet serotonin system, including whole blood 5-HT, 5-HT binding affinity for the serotonin transporter (K(m)), 5-HT uptake (V(max)), and lysergic acid diethylamide (LSD) receptor binding, were previously studied in 24 first-degree relatives of probands with autism, half of whom were selected for elevated whole blood 5-HT levels. All subjects were then genotyped for selected polymorphisms at the SLC6A4, HTR7, HTR2A, ITGB3, and TPH1 loci. Previous studies allowed an a priori prediction of SLC6A4 haplotypes that separated the subjects into three groups that showed significantly different 5-HT binding affinity (K(m), p=0.005) and 5-HT uptake rate (V(max), p=0.046). Genotypes at four individual polymorphisms in SLC6A4 were not associated with platelet 5-HT indices. Haplotypes at SLC6A4 and individual genotypes of polymorphisms at SLC6A4, HTR7, HTR2A, ITGB3, and TPH1 showed no significant association with whole blood 5-HT. Haplotype analysis of two polymorphisms in TPH1 revealed a nominally significant association with whole blood 5-HT (p=0.046). These initial studies of indices of the 5-HT system with several single-nucleotide polymorphisms at loci in this system generate hypotheses for testing in other samples.

MeSH Terms (17)

Adult African Continental Ancestry Group Asian Continental Ancestry Group Autistic Disorder Blood Platelets DNA Primers European Continental Ancestry Group Female Hispanic Americans Humans Male Nuclear Family Platelet Count Polymorphism, Genetic Polymorphism, Single Nucleotide Serotonin Serotonin Plasma Membrane Transport Proteins

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