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分析常见遗传变异发现 RELN 是中国人群精神分裂症的风险基因。

Analysis of common genetic variants identifies RELN as a risk gene for schizophrenia in Chinese population.

机构信息

State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.

出版信息

World J Biol Psychiatry. 2013 Mar;14(2):91-9. doi: 10.3109/15622975.2011.587891. Epub 2011 Jul 11.

Abstract

UNLABELLED

Abstract Objectives. Several lines of evidence have shown that both RELN mRNA and protein are possibly down-regulated in the brain of schizophrenia patients. Recent association studies in European populations suggested RELN as a risk gene for schizophrenia. In this study, we test if RELN contributes to the risk of schizophrenia in Chinese population. Methods. We conducted case-control association analysis of 19 representative single nucleotide polymorphisms (SNPs) spanning the entire region of RELN in two independent Han Chinese samples from southwestern China (the Kunming sample and the Yuxi sample). Results. We identified six SNPs significantly associated with schizophrenia in the Kunming sample and four of them remained significant in the combined samples (the P values range from 0.006 to 4.0 × 10(-5)). Haplotype analysis also suggested significant associations for the haplotypes incorporating the six significant SNPs (global P < 1.0 × 10(-5)). Additionally, we also observed several other haplotypes (defined by a different set of SNPs) significantly associated with schizophrenia in the Kunming sample. However, the reported association of rs7341475 in Ashkenazi Jews was not significant in Han Chinese.

CONCLUSIONS

Our findings demonstrate that RELN is a susceptibility gene for schizophrenia in Chinese population, and it is likely a common risk gene for schizophrenia in major populations worldwide.

摘要

未标记

摘要目的。有几条证据表明,精神分裂症患者的大脑中 RELN mRNA 和蛋白质可能都下调。最近在欧洲人群中的关联研究表明 RELN 是精神分裂症的风险基因。在这项研究中,我们测试 RELN 是否会增加中国人群患精神分裂症的风险。方法。我们对 RELN 全区域的 19 个代表性单核苷酸多态性(SNP)进行了病例对照关联分析,这些 SNP 来自中国西南部的两个独立汉族人群(昆明样本和玉溪样本)。结果。我们在昆明样本中发现了 6 个与精神分裂症显著相关的 SNP,其中 4 个在合并样本中仍然显著(P 值范围从 0.006 到 4.0×10(-5))。单体型分析也表明,包含这 6 个显著 SNP 的单体型与精神分裂症显著相关(全局 P < 1.0×10(-5))。此外,我们还观察到昆明样本中几个其他单体型(由不同的 SNP 定义)与精神分裂症显著相关。然而,在汉族人群中,报道的 rs7341475 与阿什肯纳兹犹太人的关联并不显著。结论。我们的研究结果表明,RELN 是中国人群精神分裂症的易感基因,它可能是世界主要人群精神分裂症的共同风险基因。

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