LRRK2 R1628P contributes to Parkinson's disease susceptibility in Chinese Han populations from mainland China

LRRK2 R1628P contributes to Parkinson's disease susceptibility in Chinese Han populations from mainland China
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DOI:
10.1016/j.brainres.2009.08.047
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发表时间:
2009-10-16
期刊:
影响因子:
2.9
通讯作者:
Xu, Yanming
Xu, Yanming
中科院分区:
医学3区
文献类型:
--
作者:
Yu, Lihua;Hu, Fayun;Xu, Yanming

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增加帕金森病(PD)风险的常见遗传变异可能会区分患者亚组并影响未来的个体治疗策略。先前的研究发现,在台湾和新加坡汉族人群中,PD与富含亮氨酸重复激酶2 (LRRK2)基因多态性存在关联。在此,我们进行了一项病例对照研究,并提供证据支持LRRK2 R1628P变异是来自中国大陆的2个不同汉族人群帕金森病的危险因素。采用pcr -限制性片段长度多态性分析对328例PD患者和300例对照进行基因分型。采用卡方检验评估两组间基因型频率的差异。在PD组中,17例(5.2%)患者为R1628P变异杂合。这明显高于对照组[2.0%,P
Common genetic variants that increase the risk for Parkinson's disease (PD) may differentiate patient subgroups and influence future individual therapeutic strategies. Previous studies have found associations between PD and polymorphisms located within the leucine-rich repeat kinase 2 (LRRK2) gene in ethnic Han Chinese from Taiwan and Singapore. Herein, we performed a case-control study and provide evidence supporting the LRRK2 R1628P variant as a risk factor for PD in 2 separate Chinese Han populations from mainland China. A total of 328 PD patients and 300 control individuals were genotyped using PCR-restriction fragment length polymorphism analysis. Differences in genotype frequencies between groups were assessed by the chi-square test. In the PD group, 17 patients (5.2%) were heterozygous for the R1628P variant. This was significantly higher than for the control group [2.0%, P