The polymorphism of SREBF1 gene rs11868035 G/A is associated with susceptibility to Parkinson's disease in a Chinese population.

PURPOSE:To explore the potential association between the single-nucleotide polymorphism (SNP) of two functional genes (sterol regulatory element binding transcription factor1 [SREBF1] gene rs11868035 and USP25 gene rs2823357) and susceptibility to Parkinson's disease (PD) in people of Northeast China. METHODS:A number of 649 cases of PD 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 (KASP) 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 was significantly higher than in control group of SREBF1 gene rs11868035 (p<.001). PD patients with G/A variant got higher UPDRSII + III score and lower MMSE score than non-carriers, which was statistically different (p=.017, p=.003, respectively). As for USP25, there was no significant difference in the distributions of genotypes and alleles of rs2823357 between PD patients and controls (p>.05). CONCLUSIONS:Polymorphism of SREBF1 gene rs11868035 may increase susceptibility to PD in the northeastern Chinese population, while variant of USP25 gene rs2823357 may have no association with susceptibility to PD in northeastern Chinese. PD patients with G/A variant may worsen their motor and cognitive function disorder.

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