Catechol-O-methyltransferase Val158Met polymorphism and risk of autism spectrum disorders

doi:10.1177/0300060513479871

科研成果详情

题名	Catechol-O-methyltransferase Val158Met polymorphism and risk of autism spectrum disorders
作者	Guo, Tianyou 1; Wang, Weiqian2; Liu, Bing3; Chen, Hong 2; Yang, Chuang2
发表日期	2013-06
发表期刊	JOURNAL OF INTERNATIONAL MEDICAL RESEARCH 影响因子和分区
语种	英语
原始文献类型	Article
关键词	Catechol-O-methyltransferase autism gene polymorphism COMT gene
其他关键词	PERVASIVE DEVELOPMENTAL DISORDERS ; SINGLE NUCLEOTIDE POLYMORPHISMS ; CHINESE HAN POPULATION ; VAL(158)MET POLYMORPHISM ; GENE POLYMORPHISMS ; ASSOCIATION ; COMT ; SCHIZOPHRENIA ; METAANALYSIS ; VARIANTS
摘要	Objective Autism spectrum disorders (ASD) are a family of childhood-onset neurodevelopmental disorders with complex genetic mechanisms underlying their aetiology. The aim of this case-control study was to evaluate the effect of the catechol-O-methyltransferase (COMT) gene Val158Met polymorphism on ASD risk in a Chinese Han population. Methods The COMT gene Val158Met polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism in children (18 years old) with ASD and healthy control subjects. Results The frequency of the Val158/Val158 genotype in children with ASD (22/186; 11.8%) was significantly lower than in controls (38/186; 20.4%). When stratifying by select-item scores on the Autism Diagnostic Interview-Revised protocol, it was found that children with current overactivity' and ever overactivity' had a significantly lower frequency of the Val158/Val158 genotype than those without. There were no significant associations between the COMT gene Val158Met polymorphism and ASD subtypes. Conclusions The COMT gene Val158Met polymorphism may be a biomarker for phenotypic variation in ASD, but these preliminary findings remain tentative, pending replication in larger, independent samples.
出版者	SAGE PUBLICATIONS LTD
出版地	LONDON
ISSN	0300-0605
EISSN	0300-0605
卷号	41 期号:3 页码:725-734
DOI	10.1177/0300060513479871
页数	10
WOS类目	Medicine, Research & Experimental ; Pharmacology & Pharmacy
WOS研究方向	Research & Experimental Medicine ; Pharmacology & Pharmacy
WOS记录号	WOS:000319943300022
收录类别	SCIE ; SCOPUS
URL	查看原文
PubMed ID	23613504
SCOPUSEID	2-s2.0-84887333696
通讯作者地址	[Yang, Chuang]Department of Psychiatry,First Affiliated Hospital of WenZhou Medical College,2 FuXue Lane,China
Scopus学科分类	Biochemistry;Cell Biology;Biochemistry (medical)
引用统计	被引频次：12[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/4175
专题	附属第一医院精神医学学院_心理学系
通讯作者	Yang, Chuang
作者单位	1.Department of Psychology,Normal College,Shenzhen University,China; 2.Department of Psychiatry,First Affiliated Hospital of WenZhou Medical College,China; 3.Department of Psychology,WenZhou Medical College,China
通讯作者单位	附属第一医院
推荐引用方式 GB/T 7714	Guo, Tianyou,Wang, Weiqian,Liu, Bing,et al. Catechol-O-methyltransferase Val158Met polymorphism and risk of autism spectrum disorders[J]. JOURNAL OF INTERNATIONAL MEDICAL RESEARCH,2013,41(3):725-734.
APA	Guo, Tianyou, Wang, Weiqian, Liu, Bing, Chen, Hong, & Yang, Chuang. (2013). Catechol-O-methyltransferase Val158Met polymorphism and risk of autism spectrum disorders. JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 41(3), 725-734.
MLA	Guo, Tianyou,et al."Catechol-O-methyltransferase Val158Met polymorphism and risk of autism spectrum disorders".JOURNAL OF INTERNATIONAL MEDICAL RESEARCH 41.3(2013):725-734.