Objective: This study aimed to replicate the relationship between 12 novel SNPs of 12 genes and PD risk in southern Chinese populations.

Background: Numerous single-nucleotide polymorphisms (SNPs), which have been identified as susceptibility factors for Parkinson’s disease (PD) as per genome-wide association studies (GWAS), have not been fully characterized for PD patients in China.

Method: 12 SNPs of 12 genes were detected in 231 PD patients and 249 controls, using the SNaPshot technique. Meta-analysis was used to assess heterogeneity of effect sizes between this study and published data. The impact of SNPs on gene expression was investigated by analyzing the SNP-gene association in the expression quantitative trait loci (eQTL) datasets.

Results: rs8180209 of SNCA (allele model: p=0.047, OR=0.77; additive model: p=0.047, OR=0.77), rs2270968 of MCCC1 (dominant model: p=0.024, OR=1.52), rs7479949 of DLG2 (recessive model; p=0.019, OR=1.52), rs10748818 of GBF1 (additive model: p<0.001, OR=0.37), and rs4771268 of MBNL2 (recessive model: p=0.003, OR=0.48) were replicated to be significantly associated with the increased risk of PD. Noteworthy, a meta-analysis of previous studies suggested rs8180209, rs2270968, rs7479949 and rs4771268 were in line with those of our cohort.

Conclusion: Our study replicated five novel functional SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 could be associated with increased risk of PD in southern Chinese populations.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/snps-in-snca-mccc1-dlg2-gbf1-and-mbnl2-are-associated-with-parkinsons-disease-in-southern-chinese-populations/