Genetic Evidence for the Association between the Early Growth Response 3 (EGR3) Gene and Schizophrenia
Open accessAbstract
Recently, two genome scan meta-analysis studies have found strong evidence for the association of loci on chromosome 8p with schizophrenia. The early growth response 3 (EGR3) gene located in chromosome 8p21.3 was also found to be involved in the etiology of schizophrenia. However, subsequent studies failed to replicate this finding. To investigate the genetic role of EGR3 in Chinese patients, we genotyped four SNPs (average interval ∼2.3 kb) in the chromosome region of EGR3 in 470 Chinese schizophrenia patients and 480 healthy control subjects. The SNP rs35201266 (located in intron 1 of EGR3) showed significant differences between cases and controls in both genotype frequency distribution (P = 0.016) and allele frequency distribution (P = 0.009). Analysis of the haplotype rs35201266-rs3750192 provided significant evidence for association with schizophrenia (P = 0.0012); a significant difference was found for the common haplotype AG (P = 0.0005). Furthermore, significant associations were also found in several other two-, and three-SNP tests of haplotype analyses. The meta-analysis revealed a statistically significant association between rs35201266 and schizophrenia (P = 0.0001). In summary, our study supports the association of EGR3 with schizophrenia in our Han Chinese sample, and further functional exploration of the EGR3 gene will contribute to the molecular basis for the complex network underlying schizophrenia pathogenesis.
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Egr3 has been implicated in both schizophrenia and circadian organization.
“Another gene that has been implicated in both SZ and circadian organization is immediate early gene growth response 3 (Egr3)162,165–168.”
From Circadian rhythm disruption and mental health (2020) · cites this paper as [166]
The Discussion (page not supplied) reports an association between EGR3 variants and schizophrenia. Neither the supplied passages nor searches for circadian rhythms, sleep, and clock-related terms establish an EGR3 role in circadian organization, so that part of the claim is unsupported by this paper. (LLM, conf=0.87)
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EGR3 Deletion Rescues Developmental and Epileptic Encephalopathy in Kcna1 -null MicePreprint
Mazumder, A. G., Karedia, S., Adhyapak, N., Schimer, C., Bass, J. S., Kamen, J. L., Jankovic, M. J., Miao, Q., Gallitano, A. L., Saltzman, A. B., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.07.658422
- Authors
- Zhang, R., Lu, S., Meng, L., Min, Z., Tian, J., Valenzuela, R. K., Guo, T., Tian, L., Zhao, W., & Ma, J.
- Affiliations
- Xi'an Jiaotong University (CN)
- University of Arizona (US)
- Albert Einstein College of Medicine (US)
- Corresponding author
- Ma, Jie
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2012-01-20
- Volume
- 7
- Issue
- 1
- Pages
- e30237
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3262808
- OpenAlex
- W2003328263
- Cited by
- 30
- References
- 61
- Citations by year
- 2025: 1 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 1 · 2020: 5 · 2018: 4 · 2016: 2 · 2015: 4 · 2014: 3 · 2013: 3 · 2012: 1
- FWCI
- 2.50
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Natural Science Foundation of China (30800618)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Keywords
- EGR3, schizophrenia, single nucleotide polymorphisms, haplotype association, genetic susceptibility, Han Chinese
- MeSH terms
- Adolescent, Adult, Female, Genotype, Haplotypes, Humans, Male, Middle Aged, Schizophrenia, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asian People, Early Growth Response Protein 3, Young Adult
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