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

被引：0

作者：

王佳 ^{[1
]}

李丽 ^{[2
]}

邵珊珊 ^{[1
]}

何珍 ^{[3
]}

陈艳琳 ^{[2
]}

孔锐 ^{[1
]}

张晓慧 ^{[1
]}

龚建华 ^{[2
]}

宋然然 ^{[1
]}

机构：

[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

[2] Maternity and Children Health Care Hospital of Luohu District

[3] Central Hospital of Longhua New District

来源：

Current Medical Science | 2016年 / 02期

基金：

中央高校基本科研业务费专项资金资助;

关键词：

polymorphism; rs13331; PSD95; autism spectrum disorder;

D O I：

暂无

中图分类号：

R749.94 [儿童精神病];

学科分类号：

100205 ;

摘要：

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.

引用

页码：285 / 288

页数：4

共 20 条

[1] Cognitive shifting and externalising problem behaviour in intellectual disability and autism spectrum disorder [J].

Visser, E. M. ;

Berger, H. J. C. ;

Lantman-De Valk, H. M. J. Van Schrojenstein ;

Prins, J. B. ;

Teunisse, J. P. .

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2015, 59 (08) :755-766

[2] Language Impairment and Dyslexia Genes Influence Language Skills in Children With Autism Spectrum Disorders [J].

Eicher, John D. ;

Gruen, Jeffrey R. .

AUTISM RESEARCH, 2015, 8 (02) :229-234

[3]

Association between impairment, function, and daily life task management in children and adolescents with autism[J] . Ying‐Chia Kao,Jessica M Kramer,Kendra Liljenquist,Wendy J Coster.Dev Med Child Neurol . 2015 (1)

[4] Does long time spending on the electronic devices affect the reading abilities? A cross-sectional study among Chinese school-aged children [J].

He, Zhen ;

Shao, Shanshan ;

Zhou, Jie ;

Ke, Juntao ;

Kong, Rui ;

Guo, Shengnan ;

Zhang, Jiajia ;

Song, Ranran .

RESEARCH IN DEVELOPMENTAL DISABILITIES, 2014, 35 (12) :3645-3654

[5]

A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population[J] . Shanshan Shao,Sanqing Xu,Jun Yang,Ti Zhang,Zhen He,Zhao Sun,Ranran Song.Molecular Biology Reports . 2014 (3)

[6] A Danish population-based twin study on autism spectrum disorders [J].