Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism
Open accessAbstract
Summary: 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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
CYFIP1 is a candidate gene for intellectual disability, autism, schizophrenia and epilepsy.
“Cytoplasmic FMRP interacting protein 1 (CYFIP1) is a candidate gene for intellectual disability (ID), autism, schizophrenia and epilepsy.”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Wang et al., 2015
The Introduction identifies CYFIP1 as a possible contributor to autism and schizophrenia, and the Discussion reports an association between CYFIP1 regulatory variants and ASD or classical autism. The passages do not identify CYFIP1 as a candidate gene for intellectual disability or epilepsy; the gene’s expanded name is not evidence for those conditions. (LLM, conf=0.87)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Mapping complex disease traits with global gene expression
Cookson, W., Liang, L., Abecasis, G., Moffatt, M., & Lathrop, M. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2537 · Cited by 849 · see citing works
Vorstman, J. A. S., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F. R., & Franke, L. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001757 · Cited by 353 · cited 1× · see citing works
“Rearrangements of 15q11-q13, which include CYFIP1 and many additional genes, are frequently detected in autistic patients (Vorstman et al., 2005; Depienne et al., 2009).”
BackgroundDe Rubeis, S., Pasciuto, E., Li, K. W., Fernández, E., Di Marino, D., Buzzi, A., Ostroff, L. E., Klann, E., Zwartkruis, F. J. T., Komiyama, N. H., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.06.039 · Cited by 296 · see citing works
p140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase
Kobayashi, K., Kuroda, S., Fukata, M., Nakamura, T., Nagase, T., Nomura, N., Matsuura, Y., Yoshida-Kubomura, N., Iwamatsu, A., & Kaibuchi, K. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.1.291 · Cited by 244 · see citing works
Davis, L. K., Gamazon, E. R., Kistner-Griffin, E., Badner, J. A., Liu, C., Cook, E. H., Sutcliffe, J. S., & Cox, N. J. (2012) · Molecular Autism · doi:10.1186/2040-2392-3-3 · Cited by 40 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Woods, C. G., Bond, J. & Enard, W. (2005) Autosomal recessive primary microcephaly (MCPH): A review of clinical, molecular, and evolutionary findings. Am J Hum Genet 76, 717-728.
Cited by
Sorted by citations
Autism As a Disorder of High Intelligence
Crespi, B. J. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00300 · Cited by 156 · see citing works
Davenport, E. C., Szulc, B. R., Drew, J., Taylor, J., Morgan, T., Higgs, N. F., López-Doménech, G., & Kittler, J. T. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.01.092 · Cited by 125 · see citing works
Dendritic spine actin cytoskeleton in autism spectrum disorder
Joensuu, M., Lanoue, V., & Hotulainen, P. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.08.023 · Cited by 65 · see citing works
Abekhoukh, S., Sahin, H. B., Grossi, M., Zongaro, S., Maurin, T., Madrigal, I., Kazue-Sugioka, D., Raas-Rothschild, A., Doulazmi, M., Carrera, P., et al. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.025809 · Cited by 59 · see citing works
“…of these proteins to To get more insight into genetic interactions between dCYFIP ( Sra-1 ) and dFMR1 ( Fmr1 ) (Schenck et al., 2003), we generated a double mutant for the two genes in Drosophila and we induced the targeted expression [gain of function (GOF)] of both genes in the larval…”
Kim, N.-S., Ringeling, F. R., Zhou, Y., Nguyen, H. N., Temme, S. J., Lin, Y.-T., Eacker, S., Dawson, V. L., Dawson, T. M., Xiao, B., et al. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.04.023 · Cited by 15 · see citing works
Scott-Solache, J., Pei, J., Drew, J., López-Doménech, G., Jolivet, R. B., Nieto-Rostro, M., Davenport, E. C., Arancibia-Cárcamo, I. L., Attwell, D., & Kittler, J. T. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2532488123 · Cited by 2 · see citing works
CYFIP1 governs the development of cortical axons by modulating calcium availability
Ricci, C., Midroit, M. J., Caicci, F., Achsel, T., Domínguez-Iturza, N., & Bagni, C. (2025) · Nature Communications · doi:10.1038/s41467-025-65801-0 · Cited by 1 · see citing works
- Authors
- Wang, J., Tao, Y., Song, F., Sun, Y., Ott, J., & Saffen, D.
- Affiliations
- Fudan University (CN)
- Department of Cellular and Genetic Medicine Fudan University Shanghai China
- Shanghai Medical College of Fudan University (CN)
- Institute of Psychology Chinese Academy of Science Beijing China
- Corresponding author
- Saffen, David
- ORCID
- Wang, Jian
- Venue
- Annals of Human Genetics
- Publisher
- Wiley
- Published
- 2015-06-19
- Volume
- 79
- Issue
- 5
- Pages
- 329-340
- ISSN
- 0003-4800 (ISSN-L)
- 1469-1809
- OpenAlex
- W2121879383
- Cited by
- 45
- References
- 5
- Citations by year
- 2026: 2 · 2025: 2 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 14 · 2019: 6 · 2018: 3 · 2017: 2 · 2016: 5 · 2015: 1
- FWCI
- 2.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Annals of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repository of Institute of Psychology, Chinese Academy of Sciences (Institute of Psychology, Chinese Academy of Sciences) (submittedVersion)
- Funders
- National Natural Science Foundation of China (81070908)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- CYFIP1, autism spectrum disorder, single nucleotide polymorphisms, regulatory variants, mRNA expression, dorsolateral prefrontal cortex, transmission disequilibrium test, genetic susceptibility
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
