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. Postsyn...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.展开更多
基金supported by grants from the Fundamental Research Funds for the Central Universities(HUST No.2015TS096)Hubei Province Health and Family Planning Scientific Research Project(No.WJ2015MB019)a funding program of Science and Technology Projects of Shenzhen(No.JCYJ20150403142731429)
文摘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.
