Association analysis of SNP rs11868035 in SREBF1 with sporadic Parkinson's disease, sporadic amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population.

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

Methods: A total of 3115 subjects, which included 1150 sporadic PD, 833 sporadic ALS, 318 MSA patients, and 814 controls, were recruited in the study. All of the subjects were genotyped for rs11868035 using the Sequenom iPLEX Assay.

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 allele "G"of rs11868035 is associated with a reduced 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 controls, and between MSA and controls.

Conclusion: 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.