α-synuclein promoter confers susceptibility to Parkinson's disease
α-synuclein promoter confers susceptibility to Parkinson's disease
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DOI：
10.1002/ana.20268
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发表时间：
2004-10-01
影响因子：
11.2
通讯作者：
Farrer, MJ
中科院分区：
文献类型：
--
作者：
Pals, P;Lincoln, S;Farrer, MJ
家族性帕金森病(PD)与α-突触核蛋白基因(SNCA)的错义突变和基因组倍增突变有关。SNCA内的遗传变异与许多人群中的特发性帕金森病有关。现在，我们在比利时样本中，使用SNCA基因座上的高分辨率遗传标记图来确认和扩展这些发现。我们的研究表明SNCA启动子与帕金森病的易感性有关，更具体地说，我们定义了一个最小的启动子单倍型，跨越大约15.3kb的序列，在患者中过度表达。我们的发现代表了帕金森病的生物标志物，并可能对患者的诊断、纵向评估和治疗有意义。
Familial Parkinson's disease (PD) has been linked to missense and genomic multiplication mutations of the alpha-synuclein gene (SNCA). Genetic variability within SNCA has been implicated in idiopathic PD in many populations. We now confirm and extend these findings, within a Belgian sample, using a high-resolution map of genetic markers across the SNCA locus. Our study implicates the SNCA promoter in susceptibility to PD, and more specifically defines a minimum promoter haplotype, spanning approximately 15.3kb of sequence, which is overrepresented in patients. Our findings represent a biomarker for PD and may have implications for patient diagnosis, longitudinal evaluation, and treatment.