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Abstract
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.
Acknowledgments
We thank all the subjects who participated in this study and our fellows for their assistance in recruiting patients in the study.
Statement of interest
None to declare.