Association analysis of genetic variant of rs13331 in PSD95 gene with autism spectrum disorders: A case-control study in a Chinese population / 华中科技大学学报(医学)(英德文版)
Journal of Huazhong University of Science and Technology (Medical Sciences)
; (6): 285-288, 2016.
Article
em En
| WPRIM
| ID: wpr-285272
Biblioteca responsável:
WPRO
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.
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WPRIM
Assunto principal:
Polimorfismo de Fragmento de Restrição
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Estudos de Casos e Controles
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China
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Polimorfismo de Nucleotídeo Único
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Peptídeos e Proteínas de Sinalização Intracelular
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Transtorno do Espectro Autista
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Proteína 4 Homóloga a Disks-Large
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Genética
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Proteínas de Membrana
Tipo de estudo:
Observational_studies
/
Risk_factors_studies
Limite:
Aged
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Child
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Child, preschool
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Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Journal of Huazhong University of Science and Technology (Medical Sciences)
Ano de publicação:
2016
Tipo de documento:
Article