Genetic Analysis of Dopamine Receptors (DRD4 and DRD5) in Patients with Autism with Attention Deficit Hyperactivity Disorder (ADHD) in Thi-Qar Province –Iraq

Document Type : Original Article

Authors

1 Department of Chemistry, College of Science, University of Thi-Qar, Thi-Qar, 64001, Iraq

2 Dept. of Chemistry/ College of Science/University of Thi-Qar Thi-Qar, 64001/Iraq

3 M.B.Ch.B., C.A.B.P., F.I.C.M.P. (Pediatrics) Ministry of Higher Education and Scientific Research, Department of Pediatrics, College of Medicine, University of Thi-Qar, Thi-Qar, Iraq

Abstract

Autism is a neurodevelopmental disorder that has recently been recognized as a public health problem. Attention Deficit Hyperactivity Disorder (ADHD) is a condition that impacts the brain, leading to abnormal levels of hyperactivity and impulsive behavior. This study aims to perform DNA sequencing to identify the genotypes of the DRD4 and DRD5 polymorphisms and to detect any mutations present in the target gene sequences. The study examined the genetic polymorphisms of DRD4 and DRD5 in autism and ADHD patients compared to the control group. For the DRD4 gene, no significant differences were found between the CT and TT genotypes and the wild CC genotype in both the autism and control groups (OR 0.92 and OR 0.30, respectively).  Five mutations were identified in the DRD4 promoter region. Regarding the DRD5 gene, significant differences were found, particularly for the GA genotype in autism patients (OR 4) and the AA genotype (OR 12), with increased risk associated with the A allele (OR 6.50). In ADHD patients, the GG genotype increased the risk by four times (OR 4), while the GA genotype increased it by 4.5 times (OR 4.50). The allele frequencies differed significantly between patients and controls (G: 26.67%, A: 73.33%). Additionally, 11 mutations were documented in the DRD5 gene region. These findings highlight the potential genetic contributions to autism and ADHD our results found that the DRD4-376 CT genotype is associated with the development of ADHD. Regarding DRD5 (rs77434921), GA and AA genotypes are related to ADHD and autism in Iraqi children.

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