Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism

Am J Med Genet. 2002 Apr 8;114(3):277-83. doi: 10.1002/ajmg.10192.


Hyperserotonemia in autism is one of the longest-standing biochemical findings in a psychiatric disorder. This well-replicated finding and subsequent studies of platelet serotonin receptors in autism indicate that the serotonin 2A receptor gene (HTR2A) on chromosome 13q is a primary candidate gene in autism. Converging data from recent genome screens also implicates the genomic region containing HTR2A. Based on these lines of evidence, the transmission/disequilibrium test (TDT) was used to assess transmission disequilibrium between autism and haplotypes of three polymorphisms, including the promoter -1438 G/A single nucleotide polymorphism (SNP) in perfect linkage disequilibrium with the 102 T/C SNP in previous studies, a newly identified SNP in intron 1 near exon 2, and the SNP responsible for the His452Tyr amino acid change in exon 3. Because expression studies have shown HTR2A to be polymorphically imprinted in the brain, secondary analyses were split into maternal and paternal transmissions. No evidence was found for unequal transmission of haplotypes; however, power analysis reveals low power to detect a parent-of-origin effect in this sample size.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Autistic Disorder / genetics*
  • Family Health
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Linkage Disequilibrium*
  • Male
  • Polymorphism, Single Nucleotide / genetics
  • Receptor, Serotonin, 5-HT2A
  • Receptors, Serotonin / genetics*


  • Receptor, Serotonin, 5-HT2A
  • Receptors, Serotonin

Associated data

  • OMIM/182135