Premium
Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children
Author(s) -
Ismail Samira,
Senna Azza Abo,
Behiry Eman G.,
Ashaat Engy A.,
Zaki Maha S.,
Ashaat Neveen A.,
Salah Dina M.
Publication year - 2019
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.32729
Subject(s) - methylenetetrahydrofolate reductase , autism , genotype , medicine , autism spectrum disorder , genetics , allele , neurodevelopmental disorder , gastroenterology , pediatrics , gene , psychiatry , biology
Abstract Background Autism spectrum disorders (ASD) is a heterogeneous neurodevelopmental disease, various articles reported that dysfunctional folate‐methionine pathway enzymes might assume a paramount part in the pathophysiology of autism. Methylene tetrahydrofolate reductase (MTHFR) is a basic catalyst for this pathway, also MTHFR gene C677T variant accounted as a risk factor of autism. Objective The present study aimed to investigate the association of MTHFR gene rs1801133(C677T) variant among Egyptian autistic children .Methods The study included 78 autistic children, and 80 matched healthy control children. Full clinical and radiological examinations were conducted. MTHFR genetic variant, rs1801133(C677T) was studied by using polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) methods followed by direct sequencing technique. Results MTHFR (C677T) allele frequency was found to be higher significantly in ASD cases compared with nonautistic children. Also, we had a higher distribution of combined CT + TT genotypes among autistic patients with consanguinity and family history of psychological disease. In Gastrointestinal tract (GIT) and sleep disorders showed a higher distribution of hetero CT genotype as well as combined CT + TT genotypes. Conclusion This study demonstrated a role of MTHFR gene (C667T) variant with the increased risk for ASD.