首页> 外文期刊>Journal of Medical Biochemistry >Common Variants in BCL9 Gene and Schizophrenia in a Japanese Population: Association Study, Meta-Analysis and Cognitive Function Analysis / UOBI?AJENE VARIJANTE BCL9 GENA I ?IZOFRENIJA U JAPANSKOJ POPULACIJI: ?TUDIJA POVEZANOSTI, METAANALIZA I ANALIZA KOGNITIVNIH FUNKCIJA
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Common Variants in BCL9 Gene and Schizophrenia in a Japanese Population: Association Study, Meta-Analysis and Cognitive Function Analysis / UOBI?AJENE VARIJANTE BCL9 GENA I ?IZOFRENIJA U JAPANSKOJ POPULACIJI: ?TUDIJA POVEZANOSTI, METAANALIZA I ANALIZA KOGNITIVNIH FUNKCIJA

机译:日本人口中BCL9基因和精神分裂症的常见变异:关联研究,荟萃分析和认知功能分析/日本人口中BCL9基因和异肾上腺素的常见变异:?

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SummaryBackground:Schizophrenia is a relatively common disorder, with a lifetime prevalence of about 1%. Family history is the most important risk factor for schizophrenia, consistent with a genetic contribution to its etiology. Recent human genetic studies reported that some common variants located within BCL9 are associated with schizophrenia in the Chinese population, but not associated with bipolar disorder in the Caucasian population.Methods: Single nucleotide variant (SNP) prioritization sample was comprised of 575 patients with schizophrenia and 564 healthy controls with no personal or family history of psychiatric illness. For SNP association analysis, we used an independent Japanese sample set (replication sample) comprising 1464 cases and 1171 controls. For the analysis of cognitive performance, we investigated 115 cases and 87 controls using Continuous Performance Test (CPT-IP) and the Wisconsin Card Sorting Test Keio version (WCST). Meta-selectanalysis was performed using a combined Japanese total sample (N=3735) and a Chinese sample from a previous study.Results: In the replication sample set, we did not detect any association in 2 SNPs (rs672607 and rs10494252) and schizophrenia. Meta-analysis of rs672607 showed significant association (p-value 0.012, odds ratio 0.855). There was a significant (p<0.01) difference between the A/A and G carrier group of rs672607 in CPT mean d’ (p=0.0092).Conclusions: We were able to detect evidence for an association between rs672607 in BCL9 and schizophrenia in the meta-analysis of Japanese and Chinese populations. Additionally, this common variant may affect cognitive performance, as measured by the CPT-IP in schizophrenia patients.
机译:摘要背景:精神分裂症是一种相对常见的疾病,终生患病率约为1%。家族史是精神分裂症的最重要危险因素,这与遗传学对其病因的贡献一致。最近的人类遗传学研究报告说,BCL9内的一些常见变异与中国人群的精神分裂症有关,但与高加索人群的双相情感障碍无关。 564位无精神病患者个人或家族病史的健康对照者。对于SNP关联分析,我们使用了包含1464例病例和1171例对照的独立日语样本集(复制样本)。为了分析认知表现,我们使用持续表现测试(CPT-IP)和威斯康星卡片分类测试Keio版本(WCST)调查了115例病例和87位对照。荟萃选择分析使用合并的日本总样本(N = 3735)和来自先前研究的中国样本进行。结果:在复制样本集中,我们未发现2个SNP(rs672607和rs10494252)和精神分裂症之间有任何关联。 rs672607的荟萃分析显示出显着的相关性(p值0.012,比值比0.855)。 rs672607的A / A和G携带者组在CPT平均值d'之间存在显着(p <0.01)差异(p = 0.0092)。结论:我们能够检测到BCL9中rs672607与精神分裂症之间存在关联的证据。对日本和中国人口的荟萃分析。另外,如精神分裂症患者中的CPT-IP所测,这种常见变异可能会影响认知能力。

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