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The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.

Common variants on chromosome 6p22.1 are associated with schizophrenia

Open access
Shi, Jianxin, Levinson, Douglas F., Duan, Jubao, Sanders, Alan R., Zheng, Yonglan, Pe’er, Itsik, Dudbridge, Frank, Holmans, Peter A., Whittemore, Alice S., Mowry, Bryan J., Olincy, Ann, Amin, Farooq, Cloninger, C. Robert, Silverman, Jeremy M., Buccola, Nancy G., Byerley, William F., Black, Donald W., Crowe, Raymond R., Oksenberg, Jorge R., Mirel, Daniel B., Kendler, Kenneth S., Freedman, Robert, Gejman, Pablo V.·2009·Nature
DOI 10.1038/nature08192
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Abstract

Schizophrenia, a devastating psychiatric disorder, has a prevalence of 0.5–1%, with high heritability (80–85%) and complex transmission. Recent studies implicate rare, large, high-penetrance copy number variants in some cases, but the genes or biological mechanisms that underlie susceptibility are not known. Here we show that schizophrenia is significantly associated with single nucleotide polymorphisms (SNPs) in the extended major histocompatibility complex region on chromosome 6. We carried out a genome-wide association study of common SNPs in the Molecular Genetics of Schizophrenia (MGS) case-control sample, and then a meta-analysis of data from the MGS, International Schizophrenia Consortium and SGENE data sets. No MGS finding achieved genome-wide statistical significance. In the meta-analysis of European-ancestry subjects (8,008 cases, 19,077 controls), significant association with schizophrenia was observed in a region of linkage disequilibrium on chromosome 6p22.1 (P = 9.54 × 10-9). This region includes a histone gene cluster and several immunity-related genes—possibly implicating aetiological mechanisms involving chromatin modification, transcriptional regulation, autoimmunity and/or infection. These results demonstrate that common schizophrenia susceptibility alleles can be detected. The characterization of these signals will suggest important directions for research on susceptibility mechanisms.

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Metadata

Authors
Shi, J., Levinson, D. F., Duan, J., Sanders, A. R., Zheng, Y., Pe’er, I., Dudbridge, F., Holmans, P. A., Whittemore, A. S., Mowry, B. J., Olincy, A., Amin, F., Cloninger, C. R., Silverman, J. M., Buccola, N. G., Byerley, W. F., Black, D. W., Crowe, R. R., Oksenberg, J. R., Mirel, D. B., Kendler, K. S., Freedman, R., & Gejman, P. V.
Venue
Nature
Publisher
Springer Science and Business Media LLC
Published
2009-07-01
Volume
460
Issue
7256
Pages
753-757
ISSN
  • 0028-0836 (ISSN-L)
  • 1476-4687
DOI
10.1038/nature08192
OpenAlex
W2014596655
Cited by
1,170
References
6
FWCI
82.32
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Common variants on chromosome 6p22.1 are associated with schizophrenia. https://app.cochat.ai/papers/10.1038/nature08192
The paper
Shi, J., Levinson, D. F., Duan, J., Sanders, A. R., Zheng, Y., Pe’er, I., Dudbridge, F., Holmans, P. A., Whittemore, A. S., Mowry, B. J., Olincy, A., Amin, F., Cloninger, C. R., Silverman, J. M., Buccola, N. G., Byerley, W. F., Black, D. W., Crowe, R. R., Oksenberg, J. R., . . . Gejman, P. V. (2009). Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature. https://doi.org/10.1038/nature08192

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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.