Prion diseases are transmissible, fatal neurodegenerative diseases that include scrapie and bovine spongiform encephalopathy (BSE) in animals and Creutzfeldt-Jakob disease (CJD) in human. The prion protein gene (PRNP) is the major genetic determinant of susceptibility, however, several studies now suggest that other genes are also important. Two recent genome wide association studies in human have identified four new loci of interest: ZBTB38-RASA2 in UK CJD cases and MTMR7 and NPAS2 in variant CJD. Complementary studies in mouse have used complex crosses to identify new modifiers such as Cpne8 and provided supporting evidence for previously implicated genes (Rarb and Stmn2). Expression profiling has identified new candidates, including Hspa13, which reduces incubation time in a transgenic model.

中文翻译：

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朊病毒疾病的遗传学。


朊病毒病是一种可传播的致命性神经退行性疾病，包括动物的痒病和牛海绵状脑病 (BSE) 以及人类的克雅氏病 (CJD)。朊病毒蛋白基因（PRNP）是易感性的主要遗传决定因素，然而，现在的一些研究表明其他基因也很重要。最近两项人类全基因组关联研究确定了四个新的感兴趣位点：英国克雅氏病病例中的 ZBTB38-RASA2 以及变异型克雅氏病中的 MTMR7 和 NPAS2。小鼠的补充研究使用复杂的杂交来鉴定新的修饰因子，例如 Cpne8，并为先前涉及的基因（Rarb 和 Stmn2）提供支持证据。表达谱分析已经确定了新的候选物，包括 Hspa13，它可以缩短转基因模型中的孵育时间。