Objective: To examine the possible genetic association of rs11868035 with Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS) and multiple system atrophy (MSA) in a Chinese population, we conducted this large case-control study.

Background: The etiology of neurodegenerative disease remains unclear. Recently, SNP rs11868035, located in an intron of the sterol regulatory element binding factor (SREBF1) gene, was found to be associated with PD in a large European population in a web-based genome-wide association study.

Methods: A total of 3,115 subjects, which included 1,150 PD, 833 ALS, and 318 MSA patients, and 814 controls, were recruited in the study. All of the subjects were genotyped for rs11868035 using the Sequenom iPLEX Assay (Sequenom iPLEX Assay, San Diego, CA, USA) according to the manufacturer’s instructions.

Results: Significant differences in the genotype distributions and minor allele frequency (MAF) of rs11868035 were observed between early onset ALS (EOALS) and matched controls (P = 0.001 and P = 0.002, respectively) and between female ALS patients and matched controls (P = 0.016 and P = 0.010, respectively). The minor G allele of rs11868035 decreased the risk for EOALS (OR=0.55[0.38–0.80)] and ALS in women (OR=0.74[0.59-0.93)]. No significant differences in the genotype distributions and MAF of rs11868035 were observed between PD or HCs, and between MSA and HCs.

Conclusions: Our results suggested that rs11868035 is likely to be associated with ALS in early-onset or female patients but not with PD or MSA in the Chinese population.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/association-analysis-of-snp-rs11868035-in-srebf1-with-parkinsons-disease-amyotrophic-lateral-sclerosis-and-multiple-system-atrophy-in-a-chinese-population/