%0 Generic %A Tian, Ye %A Wang, Lifang %A Jia, Meixiang %A Lu, Tianlan %A Ruan, Yanyan %A Wu, Zhiliu %A Wang, Linyan %A Liu, Jing %A Zhang, Dai %D 2016 %T Association of oligodendrocytes differentiation regulator gene DUSP15 with autism %U https://tandf.figshare.com/articles/dataset/Association_of_oligodendrocytes_differentiation_regulator_gene_i_DUSP15_i_with_autism/3398719 %R 10.6084/m9.figshare.3398719.v1 %2 https://ndownloader.figshare.com/files/5309842 %2 https://ndownloader.figshare.com/files/5309845 %K Autistic disorder %K genetics %K oligodendrocytes %K DUSP15 %K polymorphism %X

Objectives: Autism is a pervasive neurodevelopmental disorder with high heritability. Genetic factors play crucial roles in the aetiology of autism. Dual specificity phosphatase 15 (DUSP15) 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 DUSP15 among patients with autism. Therefore, we sequenced this mutation in autistic children and performed an association analysis between DUSP15 polymorphisms and autism.

Methods: 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 DUSP15 were genotyped via Sanger sequencing.

Results: Our results showed that rs3746599 was significantly associated with autism under allelic, additive and dominant models, respectively (χ2 =9.699, P = 0.0018; χ2 =16.224, P = 0.001; χ2 =7.198, P = 0.007). The association remained significant after Bonferroni correction and permutation tests (n = 10,000). We did not detect the missense variant p.Thr107Met reported in previous studies. However, a de novo missense variant of DUSP15 (p.Ala56Thr) with a probable disease-causing effect was detected in one autistic child while absent in healthy controls.

Conclusions: Our findings initially suggest that DUSP15 might be a susceptibility gene for autism in Chinese Han population.

%I Taylor & Francis