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Role of FOXP1 (SNPS) Gene in Autism Spectrum Disorder Pathogenesis

Zainab A Al-Ali, Masar R Al-Mousawi, Ahmed J Al-Karaqully, Alaa S Alattabi, Mohammed Shnain Ali, Liwaa Hussein Mahdi, Falah AM Salih*

Introduction: Autism Spectrum Disorder (ASD) is a group of developmental disorders with multifactorial genetic and environmental etiology. FOXP1 gene product plays an important role in the development of Central Nervous System (CNS) tissues and neuron function. The role of mutations of certain genes as cause of ASD was highly investigated. One of the blamed gene is Single Nucleotide Polymorphism (SNP) of FOXP1 rs112795301 in association with ASD that represents a fruitful area of research.

Aim: To unveil the frequency distribution of FOXP1 SNP rs112795301 and whether it has a role in pathogenesis of ASD patients.

Materials and Methods: A case-control study was done in Faculty of Medicine, University of Kufa from December, 2019 to December, 2020. We determined SNP rs112795301 of FOXP1 genes using allele specific Polymerase Chain Reaction (PCR) technique 60 autistics vs. 60 control group. Odd ratios, 95% Confidence Interval (CI) and the Chi-square test were employed to assess the genotype and allele distributions in patient groups. Statistical Package for Social Sciences (SPSS) were utilized for all statistical analysis.

Results: The analysis of frequency distribution of allele genotypes of SNP rs112795301 in FOXP1 gene (autistic group vs. control group) showed that high significant association of AA genotype, Odds ratio (OR) 4.2759 (genotype AA four times more in patient than in control) and GG genotype more with control. The A allele more in patient OR 2.6337 but no significant difference in relation to both gender and disease severity in genotyping and allelic distribution.

Conclusion: Variants of FOXP1 gene SNP rs112795301 are associated with ASD in Iraqi population, which is likely role of SNPs in etiology ASDs.