Gastrointestinal disturbances (GID) are frequently reported in children with autism
spectrum disorders (ASD). Recently, mounting evidence suggests that there may be a
genetic link for autism with gastrointestinal disturbances.
We aimed to investigate whether there were any association between the -1438A/G,
102T/C and His452Tyr polymorphisms of the serotonin 2A receptor gene (5-HT2A) in
Egyptian children with ASD and GID. Eighty children with autistic disorder and 100
healthy control children were examined. -1438A/G, 102T/C and His452Tyr polymor-
phisms of 5-HT2A were genotyped by polymerase chain reaction-restriction fragment
length polymorphism (PCR-RFLP) method. Significant increase of the G allele and the GG
genotype of the -1438A/G polymorphism was observed in children with autism than
control, but there were no significant differences in the frequencies either of the 102T/C
genotype or His452Tyr genotype between the two groups. There was a significant increase
of homozygote A allele of the -1438A/G and CC genotype of the 102T/C polymorphism in
ASD children with GID. This study supports the possible involvement of the 5-HT2A
receptor in the development of ASD and associated GID.

08 - ASSOCIATION OF 5-HT2A RECEPTOR GENE POLYMORPHISMS WITH GASTROINTESTINAL DISORDERS IN EGYPTIAN CHILDREN WITH AUTISTIC DISORDER