title: Association of 5-HT2A receptor gene polymorphisms with gastrointestinal disorders in Egyptian children with autistic disorder.
abstract: 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 polymorphisms 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.
authors.affiliation: Pediatrics Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt. Electronic address: hadeel_abdelrahman@yahoo.com.
authors.forename: Hadeel M
authors.initials: HM
authors.lastname: Abdelrahman
authors.affiliation: Pediatrics Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Laila M
authors.initials: LM
authors.lastname: Sherief
authors.affiliation: Pediatrics Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Ashgan A
authors.initials: AA
authors.lastname: Alghobashy
authors.affiliation: Pediatrics Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Sanaa M
authors.initials: SM
authors.lastname: Abdel Salam
authors.affiliation: Psychiatry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Haitham M
authors.initials: HM
authors.lastname: Hashim
authors.affiliation: Psychiatry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Nelly R
authors.initials: NR
authors.lastname: Abdel Fattah
authors.affiliation: Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Randa H
authors.initials: RH
authors.lastname: Mohamed
keywords: 5-HT2A receptor; Autism; Gastrointestinal disorders; Gene polymorphism; Serotonin