Autism in Iraqi Children: Investigating the CNTNAP2 rs7794745 Polymorphism in the Middle Euphratesv
DOI:
https://doi.org/10.22317/jcms.v10i3.1577Keywords:
ASD, CNTNAP2, SNP rs7794745, gene polymorphism, PCR-RFLP, PCR, Iraqi children, autismAbstract
Objectives: This study aims to determine if the CNTNAP2 gene polymorphism at the rs7794745 locus is associated with autism spectrum
disorder (ASD) by comparing its frequency in autistic children and healthy controls.
Methods: The case-control study involved a total of 150 samples, comprising 80 individuals diagnosed with autism spectrum disorder
(ASD) and 70 healthy children. These participants, both male and female, had an average age of 3.5 ± 3 years for autistic individuals and
4.2 ± 3 years for healthy children. Genomic analysis was performed by amplifying and scrutinizing DNA sequences through the utilization
of polymerase chain reaction (PCR) and restriction enzymes. Specifically, the genotyping of the CNTNAP2 gene at the rs7794745 locus was
accomplished using the PCR-RFLP method. To facilitate genotyping, the isolation of DNA from peripheral blood cells sourced from healthy
children and patients.
Results: Our findings indicated a statistically non-significant low-frequency distribution (P-value > 0.05) of the rs7794745 SNP in ASD
patients compared to healthy children.
Conclusion: The study’s findings propose that there is no correlation between the rs7794745 polymorphism and autism spectrum disorder (ASD).
References
Fuentes J, Bakare M, Munir K, Aguayo P, Gaddour N, Öner Ö, et al. Autism spectrum disorders. IACAPAP E-textb child Adolesc Ment Heal Geneva Int Assoc Child Adolesc Psychiatry Allied Prof. 2012;1–27.
Li X, Hu Z, He Y, Xiong Z, Long Z, Peng Y, et al. Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population. Psychiatr Genet. 2010;20(3):113–7.
Kim YS, Leventhal BL, Koh Y-J, Fombonne E, Laska E, Lim E-C, et al. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry. 2011;168(9):904–12.
Hodges H, Fealko C, Soares N. Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation. Transl Pediatr. 2020;9(Suppl1):S55.
S. Ozonoff, G. S. Young, A. Carter, D. Messinger, N. Yirmiya, and L. Zwaigenbaum, & Stone, WL (2011). Recurrence risk for autism spectrum disorders: A baby siblings research consortium study, Pediatrics, vol. 128, pp. e1–e8.
Abrahams BS, Tentler D, Perederiy J V, Oldham MC, Coppola G, Geschwind DH. Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc Natl Acad Sci. 2007;104(45):17849–54.
Nakabayashi K, Scherer SW. The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. Genomics. 2001;73(1):108–12.
Zare S, Mashayekhi F, Bidabadi E. The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population. J Clin Neurosci [Internet]. 2017;39:189–92. Available from: http://dx.doi.org/10.1016/j.jocn.2017.01.008.
Muftin NQ, Jubair S, Hadi SM. Identification of MTHFR genetic polymorphism in Iraqi autistic children. Gene Reports. 2020;18:100585.
Yassin AH, Al-Kazaz AKA, Muhsin HA. Identification of genetic mutations associated with autism in GABRB3 gene in Iraqi autistic patients. Iraqi J Sci. 2016;1184–91.
Jabbar ARAA, Jebor MA. Study of polymorphism in methionine synthase gene by RFLP-PCR in middle Euphrates region of Iraq. J Pharm Sci Res. 2018;10(12):3219.
Bourgeron T. A synaptic trek to autism. Curr Opin Neurobiol. 2009;19(2):231–4.
Peñagarikano O, Geschwind DH. What does CNTNAP2 reveal about autism spectrum disorder? Trends Mol Med. 2012;18(3):156–63.
Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, et al. Recessive symptomatic focal epilepsy and mutant contactinassociated protein-like 2. N Engl J Med. 2006;354(13):1370–7.
Bakkaloglu B, O’Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet. 2008;82(1):165–73.
Jonsson L, Zettergren A, Pettersson E, Hovey D, Anckarsäter H, Westberg L, et al. Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10. Mol Autism. 2014;5(1):1–9.
Poot M. A candidate gene association study further corroborates involvement of contactin genes in autism. Mol Syndromol. 2014;5(5): 229–35.
Sampath S, Bhat S, Gupta S, O’Connor A, West AB, Arking DE, et al. Defining the contribution of CNTNAP2 to autism susceptibility. PLoS One. 2013;8(10):e77906.
Nascimento PP, Bossolani-Martins AL, Rosan DBA, Mattos LC, Brandão-Mattos C, Fett-Conte AC. Single nucleotide polymorphisms in the CNTNAP2 gene in Brazilian patients with autistic spectrum disorder. Genet Mol Res. 2016;15(1):123.
Khalid M, Raza H, M. Driessen T, J. Lee P, Tejwani L, Sami A, et al. Genetic risk of autism spectrum disorder in a Pakistani population. Genes (Basel). 2020;11(10):1206.
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