Identification of MTHFR genetic polymorphism in Iraqi autistic children

• Published in: Gene reports Vol. 18; p. 100585
• Main Authors: Muftin, Najlaa Qassim, Jubair, Suzanne, Hadi, Shaymaa M.
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.03.2020
• Subjects: Autism; Iraqi autistic children; Methylenetetrahydrofolate reductase enzyme; MTHFR gene; Single nucleotide polymorphism; Autism; Methylenetetrahydrofolate reductase enzyme; Methylenetetrahydrofolate reductase; Single nucleotide polymorphism; MTHFR gene; Iraqi autistic children; Autism spectrum disorder
• ISSN: 2452-0144; 2452-0144
• DOI: 10.1016/j.genrep.2019.100585

Background: Methylenetetrahydrofolate reductase gene (MTHFR) which codes for the MTHFR enzyme has an impact on folate/homocysteine metabolism and associated with several disorders involving autism. This research was conducted to examine the correlation of the common polymorphism (A1298C) and risk of autism. Methods: Sixty Iraqi children (38 autistic patients and 22 normal controls) have been registered in the presented case-control study. DNA has been extracted, polymerase chain reaction (PCR) has been used for amplifying DNA and the genotyping was performed by sequencing using Sanger protocol. Results: The results showed that all the three alleles (AA, AC, CC) were non-significantly correlated with the risk of autism (O.R = 1.23, P = 0.75). Two novel single nucleotide polymorphisms (SNPs) were detected in this study, one of them is g.16704 T/C which was detected in all the study subjects except one patient and the other is g. 16,505 del C, has a very significant association with the risk of autism (O.R = 7.27, p-value = 0.007). Conclusion: The A1298C SNP is not associated with autism in our population, while a novel SNP (g.16505 del C) can be considered as genetic risk factor for autism.