期刊
JOURNAL OF HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY-MEDICAL SCIENCES
卷 36, 期 2, 页码 285-288出版社
SPRINGER
DOI: 10.1007/s11596-016-1581-z
关键词
polymorphism; rs13331; PSD95; autism spectrum disorder
资金
- Fundamental Research Funds for the Central Universities (HUST) [2015TS096]
- Hubei Province Health and Family Planning Scientific Research Project [WJ2015MB019]
- funding program of Science and Technology Projects of Shenzhen [JCYJ20150403142731429]
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.
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