Tan Eng-King, Tan Christopher, Shen Hui, Chai Anthea, Lum Sau-Ying, Teoh Mei-Lin, Yih Yuan, Wong Meng-Cheong, Zhao Yi
Department of Neurology, National Neuroscience Institute, Parkinson's Disease and Movement Disorder Program, Singapore General Hospital, Outram Road, Singapore 169608, Singapore.
Neurosci Lett. 2003 Jan 9;336(1):70-2. doi: 10.1016/s0304-3940(02)01178-3.
Polymorphism of the alpha synuclein promoter region (non-amyloid component of plaques (NACP)-Rep1) is associated with an increased risk of Parkinson's disease (PD) in three separate studies. We studied NACP-Rep1 polymorphism in two independent case control studies in our population. In study one, 104 PD and 104 age, gender and race matched controls; and in study two, 102 PD and 102 age, gender and race matched controls were examined separately. The results of both studies were analyzed independent of one another. We found three polymorphic alleles (designated 0, 1, 2). In study one, the frequency of allele 2 was significantly higher in PD patients as compared to healthy controls (0.37 versus 0.23, P=0.01, X(2)=9.98). In study two, the frequency of allele 2 was similar between PD and controls (0.31 versus 0.33, P=1.00, X(2)=0.30). There was a non-significant higher allele 2 frequency in PD when both studies were analyzed together (0.34 versus 0.28, P=0.20, X(2)=3.4). No significant differences of the various genotypes between PD and controls were found. However there were differences of the mixed dinucleotide repeats sequences for similar homozygous genotypes. Variability of the microsatellite region and potential interacting factors that could affect alpha synuclein gene transcription should be further examined.
在三项独立研究中，α-突触核蛋白启动子区域（斑块非淀粉样成分（NACP）-Rep1）的多态性与帕金森病（PD）风险增加相关。我们在我们的人群中进行了两项独立的病例对照研究，以研究NACP-Rep1多态性。在研究一中，对104例PD患者和104例年龄、性别和种族匹配的对照进行了研究；在研究二中，分别对102例PD患者和102例年龄、性别和种族匹配的对照进行了研究。两项研究的结果相互独立分析。我们发现了三个多态性等位基因（命名为0、1、2）。在研究一中，与健康对照相比，PD患者中2号等位基因的频率显著更高（0.37对0.23，P = 0.01，X(2)=9.98）。在研究二中，PD患者和对照之间2号等位基因的频率相似（0.31对0.33，P = 1.00，X(2)=0.30）。当两项研究一起分析时，PD患者中2号等位基因频率略高但无统计学意义（0.34对0.28，P = 0.20，X(2)=3.4）。在PD患者和对照之间未发现各种基因型的显著差异。然而，相似纯合基因型的混合二核苷酸重复序列存在差异。微卫星区域的变异性以及可能影响α-突触核蛋白基因转录的潜在相互作用因素应进一步研究。
