1. ¹Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai, China
2. ²Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China
3. ³Shanghai Institute of Mental Health, Shanghai, China
4. ⁴Xi'an Institute of Mental Health, Xi'an, China
5. ⁵JiLin Institute of Mental Health, JiLin, China
6. ⁶Changchun Kaixuan Hospital, Changchun, China
7. ⁷College of Life Science and Technology, Shanghai Jiao Tong University, Shanghai, China

Correspondence: Dr Lin He, Shanghai Jiao Tong University, Bio-X Life Science Research Center, PO Box 501, Hao Ran Building, 1954 Hua Shan Road, Shanghai 200030, China. E-mail: helin@nhgg.org

⁸These authors contributed equally to this work.

Received 3 August 2005; Revised 14 October 2005; Accepted 7 November 2005; Published online 10 January 2006.

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.