The genetic loci implicated in familial Parkinson’s disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort from India. We selected 298 PD cases and 301 age-matched controls for targeted resequencing (before QC), along with 363 PD genomes of Indian ancestry and 1029 publicly available whole genomes from India as healthy controls (IndiGenomes), to determine the frequency of monogenic SNCA mutations. The raw sequence reads were analyzed using an in-house analysis pipeline, allowing the detection of small variants and structural variants using Manta. The in-depth analysis of the SNCA locus did not identify missense or structural variants, including previously identified SNCA mutations, in the Indian population. The familial forms of SNCA gene variants do not play a major role in the Indian PD population and this warrants further research in the under-represented population.

与家族性帕金森病 (PD) 相关的遗传位点对印度 PD 人群的普遍性有限。我们在来自印度的 PD 队列中测试了SNCA基因的突变和已知突变的频率。我们选择了 298 个 PD 病例和 301 个年龄匹配的对照进行靶向重测序（QC 之前），以及 363 个印度血统的 PD 基因组和 1029 个来自印度的公开可用全基因组作为健康对照 (IndiGenomes)，以确定单基因SNCA突变的频率。使用内部分析流程对原始序列读数进行分析，从而可以使用 Manta 检测小变异和结构变异。对SNCA基因座的深入分析并未在印度人群中发现错义或结构变异，包括之前发现的SNCA突变。 SNCA基因变异的家族形式在印度 PD 人群中并不起主要作用，这需要对代表性不足的人群进行进一步研究。