| Summary: | <p>Abstract</p> <p>Background</p> <p>Recent research has implicated that mutations in the neurexin-1 (<it>NRXN1</it>) gene on chromosome 2p16.3 might play a role in schizophrenia, autism, and nicotine dependence. In order to explore the association of <it>NRXN1 </it>polymorphisms with schizophrenia, we made a case-control association study in Chinese Han population.</p> <p>Methods</p> <p>We examined six tag single nucleotide polymorphisms (SNPs) spanning 116.7 kb of <it>NRXN1 </it>in 768 schizophrenic patients and 738 healthy control subjects. The association of <it>NRXN1 </it>polymorphisms with schizophrenia and the age-at-onset of this disease were explored.</p> <p>Results</p> <p>Our results showed that four SNPs of <it>NRXN1 </it>gene were significantly associated with schizophrenia (rs10490168: G > A, <it>p </it>= 0.017; rs2024513: A > G, <it>p </it>= 0.006; rs13382584: T > C, <it>p </it>= 0.009; and rs1558852: G > A, <it>p </it>= 0.031). Furthermore, the association of SNP rs2024513 with schizophrenia remained significance after the Bonferroni correction. Haplotypes consisting of above six SNPs also showed significantly associated with schizophrenia (global chi-square = 14.725, <it>p </it>= 0.022). A protective haplotype AGTGCA remained associated with schizophrenia, even after 10,000 permutation tests (empirical <it>p</it>-value = 0.043). However, we did not find any association with age-at-onset of schizophrenia with <it>NRXN1 </it>polymorphisms.</p> <p>Conclusions</p> <p>Our findings suggest that <it>NRXN1 </it>might represent a major susceptibility gene for schizophrenia in Chinese Han population.</p>
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