| Title | Association of oligodendrocytes differentiation regulator gene DUSP15 with autism |
| Authors | Tian, Ye Wang, Lifang Jia, Meixiang Lu, Tianlan Ruan, Yanyan Wu, Zhiliu Wang, Linyan Liu, Jing Zhang, Dai |
| Affiliation | Peking Univ, Inst Mental Hlth, 51 Huayuan North Rd, Beijing 100191, Peoples R China. Peking Univ, Hosp 6, Beijing, Peoples R China. Peking Univ, Key Lab Mental Hlth, Minist Hlth, Beijing, Peoples R China. Peking Univ, Natl Clin Res Ctr Mental Disorders, Beijing, Peoples R China. Peking Univ, PKU IDG McGovern Inst Brain Res, Beijing, Peoples R China. |
| Keywords | Autistic disorder genetics oligodendrocytes DUSP15 polymorphism MYELIN GLYCOPROTEIN GENE DE-NOVO MUTATIONS SPECTRUM DISORDERS CORPUS-CALLOSUM YOUNG-CHILDREN TWIN PAIRS RISK DISEQUILIBRIUM SCHIZOPHRENIA CONNECTIVITY |
| Issue Date | 2017 |
| Publisher | WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY |
| Citation | WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY.2017,18(2),143-150. |
| 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 ((2)=9.699, P=0.0018; (2)=16.224, P=0.001; (2)=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. |
| URI | http://hdl.handle.net/20.500.11897/433597 |
| ISSN | 1562-2975 |
| DOI | 10.1080/15622975.2016.1178395 |
| Indexed | SCI(E) PubMed |
| Appears in Collections: | 第六医院 心理与认知科学学院 |
