Liu Li-Bo, Hu Ying, Ju Gui-Zhi, Zhang Xuan, Xie Lin, Liu Shu-Zheng, Shi Jie-Ping, Yu Ya-Qin, Xu Qi, Fan Yu, Shen Yan, Wei Jun
Research Center for Genomic Medicine, School of Public Health, Jilin University, Changchun, China.
Biomed Environ Sci. 2007 Feb;20(1):52-5.
To reconfirm the association of KPNB3 with schizophrenia in Chinese population.
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.
The genotypic distributions of both rs2588014 and rs626716 were in the Hardy-Weinberg equilibrium (P > 0.05). The TDT revealed allelic association with rs626716 (chi2 = 9.31, P = 0.0023) but not with rs2588014 (chi2 = 3.44, P = 0.064). The global P-value was 0.0099 for 100 permutations. The haplotype analysis also showed a disease association (chi2 = 25.97, df = 3, P = 0.0000097).
The present study provides further evidence in support of the KPNB3 association with schizophrenia in Chinese population.
在中国人群中再次证实KPNB3与精神分裂症的关联。
对304个由父亲、母亲和患精神分裂症的患病后代组成的中国汉族家系三联体进行KPNB3基因座上的两个单核苷酸多态性（SNP），即rs2588014和rs626716的基因分型。通过基于聚合酶链反应（PCR）的限制性片段长度多态性（RFLP）分析检测这两个SNP。通过拟合优度检验估计基因型分布的哈迪-温伯格平衡。使用UNPHASED程序进行传递不平衡检验（TDT）、单倍型分析以及这两个SNP之间的连锁不平衡（LD）的成对测量。
rs2588014和rs626716的基因型分布均处于哈迪-温伯格平衡（P>0.05）。TDT显示rs626716存在等位基因关联（χ2 = 9.31，P = 0.0023），而rs2588014不存在（χ2 = 3.44，P = 0.064）。100次置换的全局P值为0.0099。单倍型分析也显示存在疾病关联（χ2 = 25.97，自由度 = 3，P = 0.0000097）。
本研究提供了进一步的证据支持中国人群中KPNB3与精神分裂症的关联。
