PubMed日本語 - 3つのゲノム全体の関連からのデータを用いたerbb4とnrg1ハプロタイプの発見、確証と特徴描写は、精神分裂症の研究する。―QLifePro医療翻訳医療翻訳 QLifePro


Discovery, validation and characterization of erbb4 and nrg1 haplotypes using data from three genome-wide association studies of schizophrenia.


Published date



Zeynep Sena Agim, Melda Esendal, Laurent Briollais, Ozgun Uyan, Mehran Meschian, Luis Antonio Mendoza Martinez, Yongmei Ding, A Nazli Basak, Hilmi Ozcelik


Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Bogazici University, Istanbul, Turkey.


Schizophrenia is one of the most common and complex neuropsychiatric disorders, which is contributed both by genetic and environmental exposures. Recently, it is shown that NRG1-mediated ErbB4 signalling regulates many important cellular and molecular processes such as cellular growth, differentiation and death, particularly in myelin-producing cells, glia and neurons. Recent association studies have revealed genomic regions of NRG1 and ERBB4, which are significantly associated with risk of developing schizophrenia; however, inconsistencies exist in terms of validation of findings between distinct populations. In this study, we aim to validate the previously identified regions and to discover novel haplotypes of NRG1 and ERBB4 using logistic regression models and Haploview analyses in three independent datasets from GWAS conducted on European subjects, namely, CATIE, GAIN and nonGAIN. We identified a significant 6-kb block in ERBB4 between chromosome locations 212,156,823 and 212,162,848 in CATIE and GAIN datasets (p = 0.0206 and 0.0095, respectively). In NRG1, a significant 25-kb block, between 32,291,552 and 32,317,192, was associated with risk of schizophrenia in all CATIE, GAIN, and nonGAIN datasets (p = 0.0005, 0.0589, and 0.0143, respectively). Fine mapping and FastSNP analysis of genetic variation located within significantly associated regions proved the presence of binding sites for several transcription factors such as SRY, SOX5, CEPB, and ETS1. In this study, we have discovered and validated haplotypes of ERBB4 and NRG1 in three independent European populations. These findings suggest that these haplotypes play an important role in the development of schizophrenia by affecting transcription factor binding affinity.


我々は、CATIEとGAINデータセット(それぞれp = 0.0206と0.0095)で、染色体位置212,156,823と212,162,848の間にERBB4で1ブロックにつき有意な6kbを同定した。
NRG1において、有意な25kbの遮断は、32,291,552と32,317,192の間に、すべてのCATIE、GAINとnonGAINデータセット(p = 0.0005、0.0589と0.0143、それぞれ)で精神分裂症のリスクと関係していた。

460万語の専門辞書を備えた医療者専用翻訳サービス QLifePro医療翻訳