Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism | |
Wang, Jian1,2,5; Tao, Yu3; Song, Fan3; Sun, Yue1,2; Ott, Jurg6; Saffen, David1,2,3,4 | |
摘要 | Based on the analysis of mRNA expression and genotype data from the Brain Cloud database, we identified seven SNPs within or near the autism candidate gene CYFIP1 that show nominally significant correlations between genotype and CYFIP1 mRNA expression in human dorsolateral prefrontal cortex. Analysis of transmission disequilibrium test (TDT) odds ratios (ORs) for these SNPs in a large Autism Genome Project (AGP) trio-based association study revealed the high-expression alleles of four of these SNPs (rs8028440, rs2289823, rs7403800 and rs3751566) to be susceptibility alleles. Correlations between the regression coefficients for mRNA expression and log(10)-transformed TDT ORs were statistically significant [P = 0.008 (ASD); P = 0.002 (classical autism)]. Similarly, statistically significant correlations were obtained between levels of CYFIP1 mRNA expression predicted using the regression equations obtained from multiple linear regression analysis and log(10)-transformed TDT ORs for specific combinations of genotypes for both ASD (rs2289823 + rs3751566: P = 0.008) and classical autism (rs2289823 + rs3751566: P = 0.008; rs2289823 + rs3751566 + rs765763: P = 0.0006) diagnoses. Together, these results support the hypothesis that high expression of CYFIP1 mRNA increases susceptibility for both ASD and classical autism. |
关键词 | CYFIP1 autism spectrum disorder regulatory genetic variant expression quantitative locus (eQTL) |
2015-09-01 | |
语种 | 英语 |
发表期刊 | ANNALS OF HUMAN GENETICS |
ISSN | 0003-4800 |
卷号 | 79期号:5页码:329-340 |
期刊论文类型 | Article |
收录类别 | SCI |
WOS记录号 | WOS:000360092800003 |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://ir.psych.ac.cn/handle/311026/15233 |
专题 | 健康与遗传心理学研究室 |
作者单位 | 1.Fudan Univ, Inst Brain Sci, Shanghai 200433, Peoples R China 2.Fudan Univ, Sch Life Sci, Shanghai 200433, Peoples R China 3.Fudan Univ, Dept Cellular & Genet Med, Shanghai 200433, Peoples R China 4.Fudan Univ, State Key Lab Med Neurobiol, Shanghai 200433, Peoples R China 5.Shanghai Ocean Univ, Minist Educ, Key Lab Explorat & Utilizat Aquat Genet Resources, Shanghai, Peoples R China 6.Chinese Acad Sci, Inst Psychol, Beijing 100101, Peoples R China |
推荐引用方式 GB/T 7714 | Wang, Jian,Tao, Yu,Song, Fan,et al. Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism[J]. ANNALS OF HUMAN GENETICS,2015,79(5):329-340. |
APA | Wang, Jian,Tao, Yu,Song, Fan,Sun, Yue,Ott, Jurg,&Saffen, David.(2015).Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism.ANNALS OF HUMAN GENETICS,79(5),329-340. |
MLA | Wang, Jian,et al."Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism".ANNALS OF HUMAN GENETICS 79.5(2015):329-340. |
条目包含的文件 | ||||||
文件名称/大小 | 文献类型 | 版本类型 | 开放类型 | 使用许可 | ||
WOS_000360092800003.(523KB) | 期刊论文 | 出版稿 | 暂不开放 | CC BY-NC-SA | 请求全文 |
除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。
修改评论