Abstract:
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.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Yuan X,Cao B,Wu Y,Chen Y,Wei Q,Ou R,Yang J,Chen X,Zhao B,Song W,Shang Hdoi
10.1016/j.neulet.2017.11.015subject
Has Abstractpub_date
2018-01-18 00:00:00pages
128-132eissn
0304-3940issn
1872-7972pii
S0304-3940(17)30913-8journal_volume
664pub_type
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