Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, PR China.
Biochem Biophys Res Commun. 2010 Feb 19;392(4):548-50. doi: 10.1016/j.bbrc.2010.01.061. Epub 2010 Jan 25.
Several genetic variants in transcription factor genes have been reported to be associated with Parkinson's disease (PD). The mammalian achaete-scute homolog 1 gene (MASH1) controls development of the locus coeruleus. Furthermore, polyglutamine length variation in MASH1 gene appears to confer protective effects against PD, at least in Japanese population. To determine whether genetic variation in the coding region of the MASH1 gene plays a role in the etiology of PD Caucasian patients, we analyzed the whole coding region of the MASH1 gene in PD patients from North America. Case-control analysis showed nominal association between polyglutamine length variation in MASH1 and Caucasian PD, 8% of PD vs 13% of normal controls had 13 CAG repeats (p=0.027, chi2=4.906). Our data support the role of the polyglutamine length variants in the MASH1 gene in PD susceptibility.
已有研究报道，转录因子基因中的几种遗传变异与帕金森病（PD）相关。哺乳动物achaete-scute 同源物 1 基因（MASH1）控制蓝斑核的发育。此外，MASH1 基因中的多聚谷氨酰胺长度变异似乎对 PD 具有保护作用，至少在日本人群中如此。为了确定 MASH1 基因编码区的遗传变异是否在高加索 PD 患者的发病机制中起作用，我们分析了来自北美的 PD 患者的 MASH1 基因的整个编码区。病例对照分析显示，MASH1 中的多聚谷氨酰胺长度变异与高加索 PD 之间存在名义关联，8%的 PD 患者和 13%的正常对照组具有 13 个 CAG 重复（p=0.027，chi2=4.906）。我们的数据支持 MASH1 基因中多聚谷氨酰胺长度变异在 PD 易感性中的作用。
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