评估 LRRK2 基因在东印度人群帕金森病中的作用。
Evaluation of the role of LRRK2 gene in Parkinson's disease in an East Indian cohort.
机构信息
S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India.
出版信息
Dis Markers. 2012;32(6):355-62. doi: 10.3233/DMA-2012-0898.
Leucine rich repeat kinase 2 (LRRK2) gene defects cause Parkinson's disease (PD). Recently, LRRK2 has also been shown by genome wide association (GWA) studies to be a susceptibility gene for the disease. In India mutations in LRRK2 is a rare cause of PD. We, therefore, genotyped 64 SNPs across LRRK2 in 161 control samples and finally studied 6 haplotype tagging SNPs for association-based study on 300 cases and 446 ethnically matched controls to explore the potential role of LRRK2 as a susceptibility gene in PD for East Indians. We did not find any significant allele/ genotype or haplotype associations with PD suggesting that common genetic variants within LRRK2 play limited role in modulating PD among East Indians. In addition, we also screened for the common mutations (viz. p.R1441C, p.R1441G, p.R1441H, p.Y1699C, p.G2019S), and a risk variant common among Asians (p.G2385R) but did not observe any of the above mentioned variants in our cohort. Our study, therefore, strongly suggests that LRRK2 has minimal role as a candidate and susceptibility gene in PD pathogenesis among East Indians.
富含亮氨酸重复激酶 2（LRRK2）基因缺陷会导致帕金森病（PD）。最近，全基因组关联（GWA）研究还表明，LRRK2 也是该疾病的易感性基因。在印度，LRRK2 基因突变是 PD 的罕见病因。因此，我们对 161 个对照样本中的 LRRK2 进行了 64 个 SNP 的基因分型，并最终研究了 6 个单倍型标签 SNP，以对 300 例病例和 446 名种族匹配的对照进行基于关联的研究，以探讨 LRRK2 作为易感性基因在东印度人中对 PD 的潜在作用。我们没有发现任何与 PD 有显著关联的等位基因/基因型或单倍型，这表明 LRRK2 内的常见遗传变异在调节东印度人中的 PD 方面作用有限。此外，我们还筛查了常见的突变（即 p.R1441C、p.R1441G、p.R1441H、p.Y1699C、p.G2019S）和一种在亚洲人中常见的风险变异（p.G2385R），但在我们的队列中没有观察到上述任何变异。因此，我们的研究强烈表明，LRRK2 作为候选基因和易感性基因在东印度人中 PD 的发病机制中作用很小。
Zotero 插件