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. 2011 Apr 11:7:7.
doi: 10.1186/1744-9081-7-7.

A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population

Weihua Yue  1 , Yongfeng Yang, Yanling Zhang, Tianlan Lu, Xiaofeng Hu, Lifang Wang, Yanyan Ruan, Luxian Lv, Dai Zhang
Affiliations

A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population

Weihua Yue et al. Behav Brain Funct. .

Abstract

Background: Recent research has implicated that mutations in the neurexin-1 (NRXN1) gene on chromosome 2p16.3 might play a role in schizophrenia, autism, and nicotine dependence. In order to explore the association of NRXN1 polymorphisms with schizophrenia, we made a case-control association study in Chinese Han population.

Methods: We examined six tag single nucleotide polymorphisms (SNPs) spanning 116.7 kb of NRXN1 in 768 schizophrenic patients and 738 healthy control subjects. The association of NRXN1 polymorphisms with schizophrenia and the age-at-onset of this disease were explored.

Results: Our results showed that four SNPs of NRXN1 gene were significantly associated with schizophrenia (rs10490168: G > A, p = 0.017; rs2024513: A > G, p = 0.006; rs13382584: T > C, p = 0.009; and rs1558852: G > A, p = 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, p = 0.022). A protective haplotype AGTGCA remained associated with schizophrenia, even after 10,000 permutation tests (empirical p-value = 0.043). However, we did not find any association with age-at-onset of schizophrenia with NRXN1 polymorphisms.

Conclusions: Our findings suggest that NRXN1 might represent a major susceptibility gene for schizophrenia in Chinese Han population.

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Figures

Figure 1
Figure 1
Linkage disequilibrium plot consist of 6 SNPs at the NRXN1 gene and its regional plots. Pairwise linkage disequilibrium (LD) was computed for all possible combinations of the six SNPs using D' values. Six SNPs were plotted with the -log10(P-values) in the NRXN1 genomic position (in the University of California Santa Cruz March 2006 human reference sequence, hg18). Estimated recombination rates of SNPs in NRXN1 regions (taken from HapMap Japanese in Tokyo (JPT) + Chinese Han in Beijing (CHB)) are plotted to reflect the local LD structure. The index association SNP is represented by a diamond. Color of the remaining SNPs (circles) indicates LD with the index SNP based on pairwise r2 values from HapMap data.
See this image and copyright information in PMC

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