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.

中文翻译：

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在东印度队列中评估 LRRK2 基因在帕金森病中的作用。

富含亮氨酸重复激酶 2 (LRRK2)基因缺陷导致帕金森病 (PD)。最近，全基因组关联 (GWA) 研究也表明LRRK2是该疾病的易感基因。在印度，LRRK2突变是 PD 的罕见原因。因此，我们对 161 个对照样本中LRRK2 的64 个 SNP 进行了基因分型，并最终研究了 6 个单倍型标记 SNP，用于对 300 个病例和 446 个种族匹配的对照进行基于关联的研究，以探索LRRK2作为东印度人 PD 易感基因的潜在作用。我们没有发现任何显着的等位基因/基因型或单倍型与 PD 相关，这表明LRRK2 中的常见遗传变异在调节东印度人的 PD 方面发挥有限的作用。此外，我们还筛选了常见突变（即 p.R1441C、p.R1441G、p.R1441H、p.Y1699C、p.G2019S），以及亚洲人常见的风险变异（p.G2385R），但没有观察到我们队列中的任何上述变体。因此，我们的研究强烈表明，LRRK2作为东印度人 PD 发病机制中的候选基因和易感基因的作用很小。