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Res Dev Disabil. 2015 Jan;36C:485-490. doi: 10.1016/j.ridd.2014.10.023. Epub 2014 Nov 12.

Association of 5-HT2A receptor gene polymorphisms with gastrointestinal disorders in Egyptian children with autistic disorder.

Author information

1
Pediatrics Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt. Electronic address: hadeel_abdelrahman@yahoo.com.
2
Pediatrics Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
3
Psychiatry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
4
Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.

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.

KEYWORDS:

5-HT2A receptor; Autism; Gastrointestinal disorders; Gene polymorphism; Serotonin

PMID:
25462508
DOI:
10.1016/j.ridd.2014.10.023

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