Association Analysis of Genetic Variant of rs13331 in PSD95 Gene with Autism Spectrum Disorders：A Case-control Study in a Chinese Population

• Published in: Journal of Huazhong University of Science and Technology. Medical sciences Vol. 36; no. 2; pp. 285 - 288
• Main Author: 王佳 李丽 邵珊珊 何珍 陈艳琳 孔锐 张晓慧 龚建华 宋然然
• Format: Journal Article
• Language: English
• Published: Wuhan Huazhong University of Science and Technology 01.04.2016; 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%Maternity and Children Health Care Hospital of Luohu District, Shenzhen 518019, China%Central Hospital of Longhua New District, Shenzhen 518000, China
• Subjects: Aged; Autism Spectrum Disorder - genetics; Case-Control Studies; Child; Child, Preschool; China; Disks Large Homolog 4 Protein; Female; Humans; Intracellular Signaling Peptides and Proteins - genetics; Male; Medicine; Medicine & Public Health; Membrane Proteins - genetics; Middle Aged; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; 中国人群; 候选基因; 关联分析; 病例; 聚合酶链反应; 自闭; 遗传变异; 限制性片段长度; rs13331; polymorphism; PSD95; autism spectrum disorder
• ISSN: 1672-0733; 1993-1352; 1993-1352
• DOI: 10.1007/s11596-016-1581-z

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.