title: Association between autism and variants in the wingless-type MMTV integration site family member 2 ( WNT2) gene.
abstract: Autism is a severe neurodevelopmental disorder with a complex genetic aetiology. The wingless-type MMTV integration site family member 2 (WNT2) gene has been considered as a candidate gene for autism. We conducted a case-control study and followed up with a transmission disequilibrium test (TDT) analysis to confirm replication of the significant results for the first time. We conducted a case-control study of nine single nucleotide polymorphisms (SNPs) within the WNT2 gene in 170 patients with autism and 214 normal controls in a Japanese population. We then conducted a TDT analysis in 98 autistic families (trios) to replicate the results of the case-control study. In the case-control study, three SNPs (rs3779547, rs4727847 and rs3729629), two major individual haplotypes (A-T-C and G-G-G, consisting of rs3779547, rs4727847, and rs3729629), and global probability values of the haplotype distributions in the same region (global p=0.0091) showed significant associations with autism. Furthermore, all of these significant associations were also observed in the TDT analysis. Our findings provide evidence for a significant association between WNT2 and autism. Considering the important role of the WNT2 gene in brain development, our results therefore indicate that the WNT2 gene is one of the strong candidate genes for autism.
authors.affiliation: Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, Japan. PXX03135@nifty.ne.jp
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Marui
authors.forename: Ikuko
authors.initials: I
authors.lastname: Funatogawa
authors.forename: Shinko
authors.initials: S
authors.lastname: Koishi
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Hideo
authors.initials: H
authors.lastname: Matsumoto
authors.forename: Ohiko
authors.initials: O
authors.lastname: Hashimoto
authors.forename: Seiichiro
authors.initials: S
authors.lastname: Jinde
authors.forename: Hisami
authors.initials: H
authors.lastname: Nishida
authors.forename: Toshiro
authors.initials: T
authors.lastname: Sugiyama
authors.forename: Kiyoto
authors.initials: K
authors.lastname: Kasai
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Watanabe
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kano
authors.forename: Nobumasa
authors.initials: N
authors.lastname: Kato
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D051154:Wnt2 Protein / Q000235:genetics*
chemical_list: C495244:WNT2 protein, human; D051154:Wnt2 Protein