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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
2015-09-01
发表期刊ANNALS OF HUMAN GENETICS
ISSN0003-4800
文章类型Article
卷号79期号:5页码:329-340
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)
收录类别SCI
语种英语
WOS记录号WOS:000360092800003
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
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
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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.
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