title: Association of oligodendrocytes differentiation regulator gene DUSP15 with autism.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  Our findings initially suggest that DUSP15 might be a susceptibility gene for autism in Chinese Han population.
authors.affiliation: a Institute of Mental Health, Peking University , Beijing , PR China.|b Peking University Sixth Hospital , Beijing , PR China.|c Key Laboratory for Mental Health , Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University) , Beijing , PR China.
authors.forename: Ye
authors.initials: Y
authors.lastname: Tian
authors.affiliation: a Institute of Mental Health, Peking University , Beijing , PR China.|b Peking University Sixth Hospital , Beijing , PR China.|c Key Laboratory for Mental Health , Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University) , Beijing , PR China.
authors.forename: Lifang
authors.initials: L
authors.lastname: Wang
authors.affiliation: a Institute of Mental Health, Peking University , Beijing , PR China.|b Peking University Sixth Hospital , Beijing , PR China.|c Key Laboratory for Mental Health , Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University) , Beijing , PR China.
authors.forename: Meixiang
authors.initials: M
authors.lastname: Jia
authors.affiliation: a Institute of Mental Health, Peking University , Beijing , PR China.|b Peking University Sixth Hospital , Beijing , PR China.|c Key Laboratory for Mental Health , Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University) , Beijing , PR China.
authors.forename: Tianlan
authors.initials: T
authors.lastname: Lu
authors.affiliation: a Institute of Mental Health, Peking University , Beijing , PR China.|b Peking University Sixth Hospital , Beijing , PR China.|c Key Laboratory for Mental Health , Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University) , Beijing , PR China.
authors.forename: Yanyan
authors.initials: Y
authors.lastname: Ruan
authors.affiliation: a Institute of Mental Health, Peking University , Beijing , PR China.|b Peking University Sixth Hospital , Beijing , PR China.|c Key Laboratory for Mental Health , Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University) , Beijing , PR China.
authors.forename: Zhiliu
authors.initials: Z
authors.lastname: Wu
authors.affiliation: a Institute of Mental Health, Peking University , Beijing , PR China.|b Peking University Sixth Hospital , Beijing , PR China.|c Key Laboratory for Mental Health , Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University) , Beijing , PR China.
authors.forename: Linyan
authors.initials: L
authors.lastname: Wang
authors.affiliation: a Institute of Mental Health, Peking University , Beijing , PR China.|b Peking University Sixth Hospital , Beijing , PR China.|c Key Laboratory for Mental Health , Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University) , Beijing , PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.affiliation: a Institute of Mental Health, Peking University , Beijing , PR China.|b Peking University Sixth Hospital , Beijing , PR China.|c Key Laboratory for Mental Health , Ministry of Health & National Clinical Research Center for Mental Disorders (Peking University) , Beijing , PR China.|d PKU-IDG/McGovern Institute for Brain Research, Peking University , Beijing , PR China.
authors.forename: Dai
authors.initials: D
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D054637:Dual-Specificity Phosphatases / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D016015:Logistic Models; D008297:Male; D009154:Mutation; D009836:Oligodendroglia / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide
chemical_list: C000622742:DUSP15 protein, human; D054637:Dual-Specificity Phosphatases
keywords: Autistic disorder; DUSP15; genetics; oligodendrocytes; polymorphism