Examination of the MASH1 gene in patients with Parkinson's disease.
Examination of the MASH1 gene in patients with Parkinson's disease.
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DOI：
10.1016/j.bbrc.2010.01.061
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发表时间：
2010-02
影响因子：
3.1
通讯作者：
H. Deng;Hua-rong Yang;W. Le;Xiong Deng;Hongbo Xu;W. Xiong;Shaihong Zhu;W. Xie;Zhi Song
中科院分区：
文献类型：
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作者：
H. Deng;Hua-rong Yang;W. Le;Xiong Deng;Hongbo Xu;W. Xiong;Shaihong Zhu;W. Xie;Zhi Song
转录因子基因中的几种遗传变异已被报道与帕金森病（PD）相关。哺乳动物无毛鳞片同源基因1（MASH 1）控制蓝斑的发育。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，至少在日本人群中是如此。为了确定MASH1基因编码区的遗传变异是否在PD白人患者的病因中起作用，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MASH 1中多聚谷氨酰胺长度变异与白人PD之间存在名义相关性，8%的PD与13%的正常对照具有13个CAG重复（p=0.027，χ2=4.906）。我们的数据支持的作用，多聚谷氨酰胺长度变异的MASH1基因在PD易感性。
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, χ2=4.906). Our data support the role of the polyglutamine length variants in the MASH1 gene in PD susceptibility.