Association of oligodendrocytes differentiation regulator gene <i>DUSP15</i> with autism

<p><b>Objectives:</b> Autism is a pervasive neurodevelopmental disorder with high heritability. Genetic factors play crucial roles in the aetiology of autism. Dual specificity phosphatase 15 (<i>DUSP15</i>) has been recognised as a key regulator gene for oligodendrocytes differentiation. A previous study detected one de novo missense variant (p.Thr107Met) with probable deleterious function in exon 6 of <i>DUSP15</i> among patients with autism. Therefore, we sequenced this mutation in autistic children and performed an association analysis between <i>DUSP15</i> polymorphisms and autism.</p> <p><b>Methods:</b> We performed a case–control study between 255 children affected with autism and 427 healthy controls. Four tag-single nucleotide polymorphisms (SNPs) were selected. These SNPs and the previously reported mutation in exon 6 of <i>DUSP15</i> were genotyped via Sanger sequencing.</p> <p><b>Results:</b> Our results showed that rs3746599 was significantly associated with autism under allelic, additive and dominant models, respectively (<i>χ</i><sup>2 </sup>=<sup> </sup>9.699, <i>P</i> = 0.0018; <i>χ</i><sup>2 </sup>=<sup> </sup>16.224, <i>P</i> = 0.001; <i>χ</i><sup>2 </sup>=<sup> </sup>7.198, <i>P</i> = 0.007). The association remained significant after Bonferroni correction and permutation tests (<i>n</i> = 10,000). We did not detect the missense variant p.Thr107Met reported in previous studies. However, a de novo missense variant of <i>DUSP15</i> (p.Ala56Thr) with a probable disease-causing effect was detected in one autistic child while absent in healthy controls.</p> <p><b>Conclusions:</b> Our findings initially suggest that <i>DUSP15</i> might be a susceptibility gene for autism in Chinese Han population.</p>