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Cited by 345

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Genome-Wide Association Identifies a Common Variant in the Reelin Gene That Increases the Risk of Schizophrenia Only in Women

Open access
Shifman, Sagiv, Johannesson, Martina, Bronstein, Michal, Chen, Sam X, Collier, David A, Craddock, Nicholas J, Kendler, Kenneth S, Li, Tao, O'Donovan, Michael, O'Neill, F. Anthony, Owen, Michael J, Walsh, Dermot, Weinberger, Daniel R, Sun, Cuie, Flint, Jonathan, Darvasi, Ariel·2008·PLoS Genetics

Abstract

Sex differences in schizophrenia are well known, but their genetic basis has not been identified. We performed a genome-wide association scan for schizophrenia in an Ashkenazi Jewish population using DNA pooling. We found a female-specific association with rs7341475, a SNP in the fourth intron of the reelin (RELN) gene (p = 2.9 x 10(-5) in women), with a significant gene-sex effect (p = 1.8 x 10(-4)). We studied rs7341475 in four additional populations, totaling 2,274 cases and 4,401 controls. A significant effect was observed only in women, replicating the initial result (p = 2.1 x 10(-3) in women; p = 4.2 x 10(-3) for gene-sex interaction). Based on all populations the estimated relative risk of women carrying the common genotype is 1.58 (p = 8.8 x 10(-7); p = 1.6 x 10(-5) for gene-sex interaction). The female-specific association between RELN and schizophrenia is one of the few examples of a replicated sex-specific genetic association in any disease.

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  1. 2007, Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study., Diabetes, 56, 975, 10.2337/db06-1072 · doi:10.2337/db06-1072

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Metadata

Authors
Shifman, S., Johannesson, M., Bronstein, M., Chen, S. X., Collier, D. A., Craddock, N. J., Kendler, K. S., Li, T., O'Donovan, M., O'Neill, F. A., Owen, M. J., Walsh, D., Weinberger, D. R., Sun, C., Flint, J., & Darvasi, A.
Venue
PLoS Genetics
Published
2008-02-15
Volume
4
Issue
2
Pages
e28
ISSN
  • 1553-7390 (ISSN-L)
  • 1553-7404
OpenAlex
W2040922107
Cited by
345
References
36
FWCI
33.22
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: Genome-Wide Association Identifies a Common Variant in the Reelin Gene That Increases the Risk of Schizophrenia Only in Women. https://app.cochat.ai/papers/10.1371/journal.pgen.0040028
The paper
Shifman, S., Johannesson, M., Bronstein, M., Chen, S. X., Collier, D. A., Craddock, N. J., Kendler, K. S., Li, T., O'Donovan, M., O'Neill, F. A., Owen, M. J., Walsh, D., Weinberger, D. R., Sun, C., Flint, J., & Darvasi, A. (2008). Genome-Wide Association Identifies a Common Variant in the Reelin Gene That Increases the Risk of Schizophrenia Only in Women. PLoS Genetics. https://doi.org/10.1371/journal.pgen.0040028

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.