Abstract
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental disorders with complex pattern of inheritance. Several single nucleotide polymorphisms (SNPs) within coding or non-coding regions of genome have been associated with risk of this disorder. In the current study, we genotyped rs12826786, rs1899663, and rs4759314 SNPs within HOX transcript antisense RNA (HOTAIR) in 427 ASD cases and 430 normally developed children. The rs12826786 was associated with ASD in allelic (T vs. C: OR (95% CI) = 1.29 (1.07-1.57), adjusted P value = 0.03) and recessive (TT vs. TC + CC: OR (95% CI) = 1.60 (1.10-2.32), adjusted P value = 0.04) models. However, the other SNPs were not associated with ASD in any inheritance model. No estimated haplotype within HOTAIR was associated with risk of ASD in the assessed population. Based on the results of the current investigation, the rs12826786 can be regarded as a risk locus for ASD in Iranian population.
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