Association analysis of genetic variant of rs13331 in PSD95 gene with autism spectrum disorders: A case-control study in a Chinese population.
10.1007/s11596-016-1581-z
- Author:
Jia WANG
1
;
Li LI
2
;
Shan-shan SHAO
1
;
Zhen HE
3
;
Yan-lin CHEN
2
;
Rui KONG
1
;
Xiao-hui ZHANG
1
;
Jian-hua GONG
4
;
Ran-Ran SONG
1
Author Information
1. 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.
2. Maternity and Children Health Care Hospital of Luohu District, Shenzhen, 518019, China.
3. Central Hospital of Longhua New District, Shenzhen, 518000, China.
4. 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.
- Publication Type:Journal Article
- Keywords:
PSD95;
autism spectrum disorder;
polymorphism;
rs13331
- MeSH:
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;
Membrane Proteins;
genetics;
Middle Aged;
Polymorphism, Restriction Fragment Length;
Polymorphism, Single Nucleotide
- From:
Journal of Huazhong University of Science and Technology (Medical Sciences)
2016;36(2):285-288
- CountryChina
- Language:English
-
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.
