ASSOCIATION OF COX-2 GENE POLYMORPHISM WITH AUTISM SPECTRUM DISORDER

Perfilyeva, A.V. (2018) ASSOCIATION OF COX-2 GENE POLYMORPHISM WITH AUTISM SPECTRUM DISORDER. Scientific-Practical Journal of Medicine, "Vestnik KazNMU" (3). ISSN 2524 - 0692

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Abstract

Autism spectrum disorders (ASD) are heterogeneous diseases that results from the interaction between genetic and environmental factors. There is evidence for inflammation playing a significant role in ASD. Polymorphism of genes involved in inflammation can be associated with the genetic predisposition to ASD. Cyclooxygenase-2 (COX-2) converts arachidonic acid into prostaglandin H2, which promotes acute and chronic inflammation. In this study, we investigated the association of rs2745557 COX-2 polymorphism with ASD. The study included 27 children with ASD and 23 healthy individuals. Genomic DNA was extracted from buccal swabs. Genotypes were analyzed by polymerase chain reaction restriction fragment length polymorphism. Statistical analysis showed that A allele was associated with increased risk of ASD (OR = 1.57, 95% CI = 0.44 – 5.61, p=0.49). Increased risk of ASD was found for AA genotype vs the combined GG+GA genotypes (OR = 1.52, 95% CI = 0.13 – 18.03, p=0.74) and for AA+GA genotypes vs the GG genotype (OR = 1.62, 95% CI = 0.35 – 7.45, p = 0.53). The obtained results indicate that the rs2745557 polymorphism of COX-2 gene can contribute to the genetic predisposition to ASD. Further large-scale studies with more children will be conducted to confirm our findings.

Item Type:	Article
Uncontrolled Keywords:	COX-2 gene, single nucleotide polymorphism, аutism spectrum disorder, genetic predisposition
Subjects:	R Medicine > R Medicine (General)
Divisions:	Научно-практический журнал "Вестник КазНМУ" > Выпуск №4 2016 год
Depositing User:	Mr Askhat Zhakaev
Date Deposited:	07 Nov 2018 10:16
Last Modified:	07 Nov 2018 10:16
URI:	http://repository.kaznmu.kz/id/eprint/15330

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