Case-control study of the α-synuclein interacting protein gene and Parkinson's disease

Case-control study of the α-synuclein interacting protein gene and Parkinson's disease
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DOI:
10.1002/mds.10547
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发表时间:
2003-11-01
期刊:
影响因子:
8.6
通讯作者:
Rocca, WA
Rocca, WA
中科院分区:
医学1区
文献类型:
--
作者:
Maraganore, DM;Farrer, MJ;Rocca, WA

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我们对 α-突触核蛋白相互作用蛋白基因(SNCAIP,也称为 synphilin-1)和帕金森病 (PD) 进行了病例对照研究。总共 319 个 PD 病例和 195 个对照进行了四种 SNCAIP 变异的基因分型,包括内含子 4 中的微卫星重复和靠近外显子 1、4 和 6 5' 末端的三个限制性片段长度多态性 (RFLP)。总体而言,没有发现任何变异与 PD 相关。对于四个、三个和两个基因座单倍型,全局分数统计并不显着。病例组、对照组或两组组合的所有四个位点均处于连锁不平衡状态(P < 0.0001)。递归划分显示 SNCAIP 基因的变体与 α-突触核蛋白基因 (SNCA) 或 Parkin (PARK2) 基因的变体之间没有相互作用。 (C) 2003 年运动障碍协会。
We conducted a case-control study of the alpha-synuclein-interacting protein gene (SNCAIP, also known as synphilin-1) and Parkinson's disease (PD). A total of 319 PD cases and 195 controls were genotyped for four SNCAIP variants, including a microsatellite repeat in intron 4 and three restriction fragment length polymorphisms (RFLP) proximal to the 5' terminal of exons 1, 4, and 6. None of the variants were found associated with PD, overall. Global score statistics were not significant for four, three, and two loci haplotypes. All four loci were in linkage disequilibrium for cases, controls, or both groups combined (P < 0.0001). Recursive partitioning showed no interactions between variants of the SNCAIP gene and variants of the alpha-synuclein gene (SNCA) or the parkin (PARK2) gene. (C) 2003 Movement Disorder Society.