PDE4B（磷酸二酯酶4B）基因与日本人群精神分裂症的正相关。
Positive association of the PDE4B (phosphodiesterase 4B) gene with schizophrenia in the Japanese population.
作者信息
Numata Shusuke, Ueno Shu-Ichi, Iga Jun-Ichi, Song Hongwei, Nakataki Masahito, Tayoshi Shin'ya, Sumitani Satsuki, Tomotake Masahito, Itakura Mitsuo, Sano Akira, Ohmori Tetsuro
机构信息
Department of Psychiatry, Course of Integrated Brain Sciences, Medical Informatics, Institute of Health Biosciences, The University of Tokushima Graduate School, Japan.
出版信息
J Psychiatr Res. 2008 Nov;43(1):7-12. doi: 10.1016/j.jpsychires.2008.01.013. Epub 2008 Mar 10.
The phosphodiesterase 4B (PDE4B) gene is located at 1p31, a susceptibility region for schizophrenia (SZ). Moreover, PDE4B interacts with DISC1, which is a known genetic risk factor for SZ. Recently, it was reported that the PDE4B gene is associated with SZ in Caucasian and African American populations. In this study, case-controlled association analyses were performed in the Japanese population to determine if the PDE4B gene is implicated in SZ. Thirteen single nucleotide polymorphisms (SNPs) were analyzed in 444 schizophrenic patients and 452 control subjects. Three SNPs (rs2180335, rs910694 and rs472952) were significantly associated with SZ after applying multiple test correction (p=0.039, 0.004 and 0.028). In addition, a significant association was found between specific haplotypes (rs2180335 and rs910694) and SZ (permutation p=0.001). Our result suggests that variations at the PDE4B locus may play a significant role in the etiology of SZ in the Japanese population.
磷酸二酯酶4B（PDE4B）基因位于1p31，这是精神分裂症（SZ）的一个易感区域。此外，PDE4B与DISC1相互作用，而DISC1是已知的SZ遗传风险因素。最近，有报道称PDE4B基因在白种人和非裔美国人人群中与SZ有关。在本研究中，在日本人群中进行了病例对照关联分析，以确定PDE4B基因是否与SZ有关。对444例精神分裂症患者和452例对照受试者分析了13个单核苷酸多态性（SNP）。在应用多重检验校正后，三个SNP（rs2180335、rs910694和rs472952）与SZ显著相关（p = 0.039、0.004和0.028）。此外，在特定单倍型（rs2180335和rs910694）与SZ之间发现了显著关联（置换p = 0.001）。我们的结果表明，PDE4B基因座的变异可能在日本人群SZ的病因学中起重要作用。
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