title: Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
abstract: Autism spectrum disorder is a neurodevelopmental disorder characterized by deficits in social communication, impaired reciprocal social interaction, and repetitive patterns of behaviors or interests. Although the cause of autism spectrum disorder remains elusive, the present study identified peroxisomal biogenesis factor 7 (PEX7) as a gene associated with autism spectrum disorder, and this association was examined in a Korean population. PEX7 encodes a cytosolic receptor for peroxisome targeting signal 2 of peroxisomal matrix enzymes that are targeted to and translocated into the peroxisome. PEX7 defects are associated with rhizomelic chondrodysplasia punctata type 1 and Refsum disease. Mutations in PEX7 are related to a variety of mild to severe clinical symptoms, including mental retardation. The analysis of 9 intronic single nucleotide polymorphisms in 214 patients with autism spectrum disorder and 258 controls revealed the association of 2 single nucleotide polymorphisms and 1 haplotype with autism spectrum disorder (P < .05).
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam, Korea.
authors.forename: MyungJa
authors.initials: M
authors.lastname: Ro
authors.forename: JungWon
authors.initials: J
authors.lastname: Park
authors.forename: Min
authors.initials: M
authors.lastname: Nam
authors.forename: Hee Jung
authors.initials: HJ
authors.lastname: Bang
authors.forename: Jaewon
authors.initials: J
authors.lastname: Yang
authors.forename: Kyung-Sik
authors.initials: KS
authors.lastname: Choi
authors.forename: Su Kang
authors.initials: SK
authors.lastname: Kim
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung
authors.forename: KyuBum
authors.initials: K
authors.lastname: Kwack
mesh_terms: D044466:Asian People / Q000235:genetics; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008297:Male; D000074437:Peroxisomal Targeting Signal 2 Receptor; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear