期刊
ANNALS OF HUMAN GENETICS
卷 79, 期 5, 页码 329-340出版社
WILEY
DOI: 10.1111/ahg.12121
关键词
CYFIP1; autism spectrum disorder; regulatory genetic variant; expression quantitative locus (eQTL)
资金
- National Natural Science Foundation of China (NSFC) [81070908, 31470070]
- College Youth Scholars Supporting Plan of the Shanghai Municipal Education Commission
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.
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