title: Association analysis of genetic variant of rs13331 in PSD95 gene with autism spectrum disorders: A case-control study in a Chinese population.
abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by high heritability. Recently, autism, the most profound form of ASD, has been increasingly attributed to synaptic abnormalities. Postsynaptic density 95 (PSD95), encoding PSD protein-95, was found essential for synaptic formation, maturation and plasticity at a PSD of excitatory synapse. It is possibly a crucial candidate gene for the pathogenesis of ASD. To identify the relationship between the rs13331 of PSD95 gene and ASD, we performed a case-control study in 212 patients and 636 controls in a Chinese population by using a polymerase chain reaction-restriction fragment length polymerase (PCR-RFLP) assay. The results showed that in genetic analysis of the heterozygous model, an association between the T allele of the rs13331 and ASD was found in the dominant model (OR=1.709, 95% CI 1.227-2.382, P=0.002) and the additive model (OR=1.409, 95% CI=1.104-1.800, P=0.006). Our data indicate that the genetic mutation C>T at the rs13331 in the PSD95 gene is strikingly associated with an increased risk of ASD.
authors.affiliation: Department of Maternal and Child Health and MOE Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Wang
authors.affiliation: Maternity and Children Health Care Hospital of Luohu District, Shenzhen, 518019, China.
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.affiliation: Department of Maternal and Child Health and MOE Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
authors.forename: Shan-Shan
authors.initials: SS
authors.lastname: Shao
authors.affiliation: Central Hospital of Longhua New District, Shenzhen, 518000, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: He
authors.affiliation: Maternity and Children Health Care Hospital of Luohu District, Shenzhen, 518019, China.
authors.forename: Yan-Lin
authors.initials: YL
authors.lastname: Chen
authors.affiliation: Department of Maternal and Child Health and MOE Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Kong
authors.affiliation: Department of Maternal and Child Health and MOE Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
authors.forename: Xiao-Hui
authors.initials: XH
authors.lastname: Zhang
authors.affiliation: Department of Maternal and Child Health and MOE Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. 768186112@qq.com.|Maternity and Children Health Care Hospital of Luohu District, Shenzhen, 518019, China. 768186112@qq.com.
authors.forename: Jian-Hua
authors.initials: JH
authors.lastname: Gong
authors.affiliation: Department of Maternal and Child Health and MOE Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
authors.forename: Ran-Ran
authors.initials: RR
authors.lastname: Song
mesh_terms: D000368:Aged; D000067877:Autism Spectrum Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D000076122:Disks Large Homolog 4 Protein; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: C501444:DLG4 protein, human; D000076122:Disks Large Homolog 4 Protein; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins
keywords: PSD95; autism spectrum disorder; polymorphism; rs13331