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Family-based association study of Epsin 4 and Schizophrenia

Abstract

Recently, Pimm et al. identified Epsin 4 on chromosome 5q33 as a susceptibility gene for schizophrenia in the British population, based on linkage and association evidence. In Pimm's case-control study, both the single polymorphisms and the individual haplotypes at the 5′ end of the gene showed genetic association with schizophrenia. Here, we report the first study evaluating the relevance of Epsin 4 and schizophrenia outside the British population. Markers showing positive results in the original work as well as two additional polymorphisms were genotyped in 308 Han Chinese family trios. Transmission disequilibrium analysis was used to test for association of single-locus markers and multi-locus haplotypes with schizophrenia. Although no individual marker was significant at the P=0.05 level, the haplotypes detected in our samples, different from those previously reported, showed strong evidence of association (most significant global P=0.0021). Our results indicate the presence of a locus near the 5′ end of Epsin 4 conferring susceptibility to the disease and provide further support for Epsin 4 as an important potential contributor to genetic risk in schizophrenia.

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Acknowledgements

This work was supported by the Key grant Project of Chinese Ministry of Education (No.10414), PRC, The national 863 projects (2001AA224011), The National tackle-key-problem project (2002BA711A07-01), The National Natural Science Foundation of China, The Shanghai Municipal Commission for Science and Technology. We were grateful to Professor Hugh Gurling for providing us with UK DNA samples and genotyping information.

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Correspondence to L He.

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Tang, R., Zhao, X., Shi, Y. et al. Family-based association study of Epsin 4 and Schizophrenia. Mol Psychiatry 11, 395–399 (2006). https://doi.org/10.1038/sj.mp.4001780

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