Objective To reconfirm the association of KPNB3 with schizophrenia in Chinese population. Methods Two single nucleotide polymorphisms (SNPs), rs2588014 and rs626716 at the KPNB3 locus, were genotyped in 304 Chinese Han family trios consisting of fathers, mothers, and affected offsprings with schizophrenia. These 2 SNPs were detected by PCR-based restriction fragment length polymorphism (RFLP) analysis. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was used to perform transmission disequilibrium test (TDT), haplotype analysis, and pair-wise measure of linkage disequilibrium (LD) between these 2 SNPs. Results The genotypic distributions of both rs2588014 and rs626716 were in the Hardy-Weinberg equilibrium (P>0.05). The TDT revealed allelic association with rs626716 (χ2 =9.31, P=0.0023) but not with rs2588014 (χ2 =3.44, P=0.064). The global P-value was 0.0099 for 100 permutations. The haplotype analysis also showed a disease association (χ2 =25.97, df=3, P=0.0000097). Conclusion The present study provides further evidence in support of the KPNB3 association with schizophrenia in Chinese population.
