Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Saitama 351-0198, Japan.
Gene. 2013 Sep 10;526(2):246-50. doi: 10.1016/j.gene.2013.05.055. Epub 2013 Jun 4.
The early growth response gene 2 (EGR2) has been recently reported to be associated with bipolar disorder in the Korean population. However replication studies in independent cohorts of same and different ethnicities are essential for establishing the credibility of a genotype-phenotype association. With this notion, in the present study we have performed a replication study of the reported association of SNPs in EGR2 in a case-control study comprising of 867 unrelated Japanese bipolar disorder patients and 895 age-, sex- and ethnicity-matched controls. Results showed no significant differences in allele and genotype frequencies of EGR2 SNPs between bipolar disorder patients and controls and also in a sex-stratified genetic analysis. The haplotype and meta-analyses also showed no significant association with bipolar disorder. In conclusion, this is the first replication study of the previously reported association of EGR2 with bipolar disorder in a larger sample set and the results showed that the EGR2 gene is unlikely to contribute to the susceptibility of bipolar disorder in a Japanese cohort.
早期生长反应基因 2（EGR2）最近被报道与韩国人群中的双相情感障碍有关。然而，在相同和不同种族的独立队列中进行复制研究对于建立基因型-表型关联的可信度至关重要。基于这一观点，在本研究中，我们对 EGR2 中报道的 SNPs 与病例对照研究的关联进行了复制研究，该研究包括 867 名无关的日本双相情感障碍患者和 895 名年龄、性别和种族匹配的对照。结果显示，双相情感障碍患者和对照组之间 EGR2 SNPs 的等位基因和基因型频率没有显著差异，在性别分层的遗传分析中也是如此。单倍型和荟萃分析也显示与双相情感障碍没有显著关联。总之，这是对之前报道的 EGR2 与更大样本集的双相情感障碍关联的首次复制研究，结果表明 EGR2 基因不太可能导致日本队列中双相情感障碍的易感性。
