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一项基于人群的关联研究,探讨汉族人群中 2q32.3 和 8q21.3 位点与精神分裂症的关系。

A population-based association study of 2q32.3 and 8q21.3 loci with schizophrenia in Han Chinese.

机构信息

Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an, China.

出版信息

J Psychiatr Res. 2013 Jun;47(6):712-7. doi: 10.1016/j.jpsychires.2013.01.025. Epub 2013 Mar 12.

DOI:10.1016/j.jpsychires.2013.01.025
PMID:23490065
Abstract

It has been reported that two new schizophrenia susceptibility loci (2q32.3 and 8q21.3) containing two single-nucleotide polymorphisms (SNPs; rs17662626 and rs7004633) have been identified in Europeans by a genome-wide association study. To determine if the two regions are associated with schizophrenia in Han Chinese, which are distinct from Europeans, we analyzed 9 SNPs, including rs17662626 and rs7004633, within 2 regions involving 1430 cases and 1570 controls from the Han population. Single SNP association, haplotype association, and gender-specific association analyses were performed. Single SNP analyses revealed that there was no association with schizophrenia in the region of 2q32.3, but rs7004633 mapping to the region of 8q21.3 was significantly associated with schizophrenia (p = 5.1 × 10(-5); OR = 1.274; 95% CI, 1.134-1.429). Further genotype and haplotype association analyses for the region of 8q21.3 suggested a similar pattern. Additionally, analyses by haplotypes indicated that a haplotype block in the region of 8q21.3 highly associated with schizophrenia and one haplotype in this haploblock had a 1.5-fold increase in the cases. Our results provide further evidence regarding the association of the region of 8q21.3 with schizophrenia in Han Chinese, as well as Europeans, which confirmed the previous report that 8q21.3 may play important roles in the etiology of schizophrenia.

摘要

据报道,通过全基因组关联研究,在欧洲人身上发现了两个包含两个单核苷酸多态性(SNPs;rs17662626 和 rs7004633)的新精神分裂症易感基因座(2q32.3 和 8q21.3)。为了确定这两个区域是否与汉族人群中的精神分裂症有关,汉族人与欧洲人不同,我们分析了 9 个 SNP,包括 rs17662626 和 rs7004633,这些 SNP 位于涉及 1430 例病例和 1570 例对照的 2 个区域内。进行了单 SNP 关联、单体型关联和性别特异性关联分析。单 SNP 分析显示,2q32.3 区域与精神分裂症没有关联,但映射到 8q21.3 区域的 rs7004633 与精神分裂症显著相关(p=5.1×10(-5);OR=1.274;95%CI,1.134-1.429)。对 8q21.3 区域的进一步基因型和单体型关联分析表明了类似的模式。此外,对 8q21.3 区域单体型的分析表明,与精神分裂症高度相关的 8q21.3 区域单体型块和该单体型块中的一个单体型在病例中增加了 1.5 倍。我们的结果为汉族人和欧洲人 8q21.3 区域与精神分裂症的关联提供了进一步的证据,证实了之前的报告,即 8q21.3 可能在精神分裂症的病因学中发挥重要作用。

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