Analysis of GWAS-linked variants in multiple system atrophy

A recent genome-wide association study performed in European population identified 4 potentially interesting gene loci of multiple system atrophy (MSA), including the EDN1 rs16872704, MAPT rs9303521, FBXO47 rs78523330, and ELOVL7 rs7715147. Because of the genetic heterogeneity, we aimed to explore the possible genetic association between above 4 single nucleotide polymorphisms (SNPs) and MSA in Chinese Han population from Mainland China, Taiwan, and Singapore. A total of 1847 subjects comprising 906 MSA patients and 941 unrelated healthy controls were genotyped by directly sequencing for these SNPs. No significant differences in the genotype distributions, minor allele frequency of EDN1 rs16872704, MAPT rs9303521, FBXO47 rs78523330, and ELOVL7 rs7715147 between MSA patients and healthy controls, and between subtypes of MSA patients (MSA-C and MSA-P), were found. In conclusion, we demonstrated that genome-wide association study-linked SNPs in Caucasians do not confer a significant risk for MSA in the Chinese population.