Association study of BCL9 gene polymorphism rs583583 with schizophrenia and negative symptoms in Japanese population.
Association study of BCL9 gene polymorphism rs583583 with schizophrenia and negative symptoms in Japanese population.
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DOI：
10.1038/srep15705
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发表时间：
2015-10-23
影响因子：
4.6
通讯作者：
Ozaki N
中科院分区：
文献类型：
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作者：
Kimura H;Tanaka S;Kushima I;Koide T;Banno M;Kikuchi T;Nakamura Y;Shiino T;Yoshimi A;Oya-Ito T;Xing J;Wang C;Takasaki Y;Aleksic B;Okada T;Ikeda M;Inada T;Iidaka T;Iwata N;Ozaki N
B细胞CLL/淋巴瘤9（BCL 9）位于精神分裂症（SCZ）疑似基因座chr1q21.1内。最近的一项研究报道，在高加索人群中，BCL 9（rs 583583）内的单核苷酸多态性（SNP）与精神分裂症的阴性症状相关，如通过阳性和阴性综合征量表（PANSS）所测量的。因此，我们研究了rs 583583的遗传关联及其对日本患者阴性症状的影响。对于关联分析，我们使用了日本样本集，包括1089个SCZ和950个对照（CON）。使用280 SCZ研究rs 586586对PANSS检查的阴性症状的影响的分析。此外，为了分析认知性能，我们使用连续性能测试（CPT-IP）和威斯康星州卡片分类测试（WCST）京王版本调查了90个SCZ和51个CON。我们没有检测到rs 583583和SCZ之间的关联。此外，rs 583583与PANSS阴性评分或CPT-IT或WCST认知测试无关。考虑到我们以前的研究结果，结合目前对rs 583583的研究结果，我们认为BCL 9很可能没有一个常见的遗传变异，可以增加日本人群中SCZ的风险。
B-cell CLL/lymphoma 9 (BCL9) is located within the schizophrenia (SCZ) suspected locus chr1q21.1. A recent study reported that a single nucleotide polyphormism (SNP) within BCL9 (rs583583) is associated with negative symptoms of Schizophrenia, as measured by the Positive and Negative Syndrome Scale (PANSS), in the Caucasian population. We therefore investigated genetic association of rs583583, and its effect on negative symptoms in the Japanese patients. For association analysis, we used a Japanese sample set comprising 1089 SCZ and 950 controls (CON). Analysis of the effect of rs586586 on negative symptoms as examined by PANSS was investigated using 280 SCZ. Furthermore, for analysis of cognitive performance, we investigated 90 SCZ and 51 CON using the Continuous Performance Test (CPT-IP) and the Wisconsin Card Sorting Test (WCST) Keio version. We did not detect association between rs583583 and SCZ. Furthermore, rs583583 was not associated with PANSS negative scores or with CPT-IT or WCST cognitive tests. Considering the results of our previous study, combined with the results of the current study of rs583583, we argue that BCL9 most likely does not harbor a common genetic variant that can increase the risk for SCZ in the Japanese population.