Population-based and family-based association studies of an (AC)n dinucleotide repeat in α-7 nicotinic receptor subunit gene and schizophrenia

Population-based and family-based association studies of an (AC)n dinucleotide repeat in α-7 nicotinic receptor subunit gene and schizophrenia
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DOI:
10.1016/j.schres.2006.02.012
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发表时间:
2006-06-01
影响因子:
4.5
通讯作者:
He, Lin
He, Lin
中科院分区:
医学2区
文献类型:
--
作者:
Fan, Jin-Bo;Ma, Jie;He, Lin

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位于染色体15q13.2的人α-7神经元烟碱受体亚单位(CHRNA 7)基因是精神分裂症的一个强有力的候选基因。在以人群为基础的研究中,精神分裂症患者和对照组的基因型和等位基因频率分布在多重检验校正后没有显著差异,尽管观察到最常见的等位基因与精神分裂症之间名义上显著相关(P=0.023,多重检验未校正)。在以家系为基础的研究中,在160个三家系中,没有明显的相同等位基因的过度传递(Transmitted/Non-transmitted:61/50)。总的来说,我们的研究结果并不支持(AC)n二核苷酸重复序列在汉族精神分裂症易感性中的重要作用。进一步的大规模遗传学研究的基础上的一组单核苷酸多态性(SNPs),充分的特点在CHRNA 7基因的连锁不平衡模式是必要的,以确定该基因作为精神分裂症易感性的危险因素的相关性。(c)2006 Elsevier B. V.保留所有权利。
The human alpha-7 neuronal nicotinic receptor subunit (CHRNA7) gene, located at chromosome 15q13.2, represents a strong candidate gene for schizophrenia, We have examined an (AC)n dinucleotide repeat in intron 2 of the CHRNA7 gene, which was previously shown to be strongly linked with schizophrenia, using both population-based and family-based association studies. In the population-based study, no significant differences between the genotype and allele frequency distributions in schizophrenia patients and control subjects were observed after correction for multiple testing, although a nominally significant association between the most common allele and schizophrenia was observed (P=0.023, uncorrected for multiple testing). In the family-based study, there is no significant over-transmission (Transmitted/Non-transmitted: 61/50) of the same allele in 160 family trios. Overall, our results do not support a major role for the (AC)n dinucleotide repeat in schizophrenia susceptibility in Han Chinese. Further large-scale genetic studies based on a set of single nucleotide polymorphisms (SNPs) that fully characterize the linkage disequilibrium patterns at the CHRNA7 gene are necessary to determine the relevance of this gene as a risk factor for schizophrenia susceptibility. (c) 2006 Elsevier B.V. All rights reserved.