Objective: The potential association between the single-nucleotide polymorphism of two functional genes (SREBF1gene rs11868035 and USP25 gene rs2823357) and susceptibility to Parkinson’s disease (PD) in people of Northeast China was examined in the present study.

Background: Recently, genome-wide association studies have successfully identified single-nucleotide polymorphism rs11868035 near sterol regulatory element binding transcription factor1 (SREBF1) and SNP rs2823357 near Ubiquitin specific peptidase 25 (USP25) as susceptibility loci for PD. SNP rs11868035 lies in an intron of SREBF1 gene on Chr17, which is a modifier of low density lipoprotein receptor and some genes involved in sterol biosynthesis. Recent study demonstrated that SREBF1 links lipogenesis to mitophagy, and also found carriers of the USP25 rs2823357 varriant had progressed to α-synucleinopathies of PD faster than others. However, this has not been confirmed in Chinese population. In the present study we examined the association of the polymorphism of both two genes with susceptibility of PD using a case control study.

Methods: 649 cases of Parkinson’s disease from consecutive outpatient and inpatient ward of our hospital were included in this retrospective study, and 355 healthy people were also included as control group. The technique of Kompetitive Allele Specific PCR was applied to determine the frequency distribution of genotype and allele gene of rs11868035 and rs2823357 in both groups.

Results: The significant association was observed for SREBF1 gene rs11868035 in G carriers in PD patients. The frequency of GA+GG genotype and G allele in PD group is significantly higher than in control group of SREBF1 gene rs11868035 (P<0.0001). As for USP25, there was no significant difference in the distributions of genotypes and alleles of rs2823357 between PD patients and controls (P>0.05). PD patients with G/A variant have higher UPDRSⅡ+Ⅲ score and lower MMSE score than non-carriers. The results were statistically different (P=0.017, P=0.003, respective).

Conclusions: Polymorphism of SREBF1 gene rs11868035 may increase susceptibility to Parkinson’s disease in northeastern Chinese population. USP25 gene rs2823357 variants may have no association with susceptibility to Parkinson’s disease in northeastern Chinese. PD patients with G/A variant have worsened motor and cognitive function.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-polymorphism-of-srebf1-gene-rs11868035-g-a-is-associated-with-susceptibility-to-parkinsons-disease-in-a-chinese-population/