Objective: Considering the overlapping of clinical manifestation and pathologic characteristics of Alzheimer’s disease (AD) and Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS) and multiple system atrophy (MSA), we conducted a large-sample study to investigate the associations between these variants and other three common neurodegenerative diseases (PD, ALS, MSA) in a Chinese population.

Background: A number of genetic variants were identified to be associated with the risk for AD, including rs10838725 in the CELF1, rs28834970 in the PTK2B, rs17125944 in the FERMT2 and rs1041544 in SIRT2 based on the genome-wide association studies (GWAS) data.

Methods: A total of 2449 patients, including 1219 PD, 870 SALS, and 360 MSA patients, and 821 healthy controls (HCs) were examined in the current study. All cases were genotyped for SNPs using Sequenom iPLEX Assay technology.

Results: The genotype distributions of rs28834970 in the PTK2B were significant different between ALS patients and HCs, the minor allele “C” carriers have an increased risk of ALS (OR=1.26); Interestingly, the minor allele “C” of this variant increased the risk for abnormal cognitive function in PD patients(OR=1.84). In addition, the minor allele frequency of rs10838725 in CELF1 was significant high in MSA than that in HCs, the homozygous “CC” carriers have increased the risk for MSA than the homozygous “TT” carriers(OR=1.70). However, no significant differences in the genotype distributions and minor allele frequency(MAF) of rs17125944 in the FERMT2 and rs1041544 in SIRT2 were found between PD, ALS, or MSA patients and HCs.

Conclusions: This study provided new clue that these four neurodegenerative diseases shared some of common pathogenesis.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/association-analyses-of-three-susceptibility-loci-for-alzheimers-disease-in-parkinsons-disease-amyotrophic-lateral-sclerosis-and-multiple-system-atrophy/