BMC medical genomics · 2025
PICALM polymorphisms are associated with susceptibility to parkinson's disease in the Northern Chinese Han population: a case-control study.
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Yu Ran, Li Yaqing, Cao Yingying, Kong Zhen, Zhou Yuting, Hou Binghui, Xie Anmu
Аннотация
BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease. The phosphatidylinositol binding clathrin assembly protein (PICALM) gene has been implicated in neurodegenerative diseases. However, molecular genetic investigations into the role of the PICALM gene in PD within Chinese population are still lacking.
AIM: We aim to determine whether two single nucleotide polymorphisms rs642949 and rs510566, in the PICALM gene are associated with the risk and clinical features of PD.
METHODS: A total of 400 individuals with PD and 477 healthy controls were recruited. Genotyping of the PICALM gene loci (rs510566 and rs642949) was performed using TaqMan-based polymerase chain reaction-restriction fragment length polymorphism using DNA samples.
RESULTS: For rs642949, the GA genotype conferred a significantly reduced risk of PD under additive model (PC = 0.030, OR = 0.687, 95% CI: 0.506-0.931). Additionally, in male patients, the AA genotype was associated with a lower risk of PD compared to females (PC genotype = 0.008, OR = 0.355, 95% CI: 0.173-0.730; PC allele = 0.044, OR = 0.721, 95% CI: 0.544-0.954). For rs510566, no significant differences were found in genotype frequencies, allele frequencies, or in any subgroup analysis (P > 0.05).
CONCLUSIONS: The rs642949 might be associated with susceptibility to PD. In contrast, no such association was found for the rs510566. Further fundamental research is warranted to investigate the PICALM gene in PD.
AIM: We aim to determine whether two single nucleotide polymorphisms rs642949 and rs510566, in the PICALM gene are associated with the risk and clinical features of PD.
METHODS: A total of 400 individuals with PD and 477 healthy controls were recruited. Genotyping of the PICALM gene loci (rs510566 and rs642949) was performed using TaqMan-based polymerase chain reaction-restriction fragment length polymorphism using DNA samples.
RESULTS: For rs642949, the GA genotype conferred a significantly reduced risk of PD under additive model (PC = 0.030, OR = 0.687, 95% CI: 0.506-0.931). Additionally, in male patients, the AA genotype was associated with a lower risk of PD compared to females (PC genotype = 0.008, OR = 0.355, 95% CI: 0.173-0.730; PC allele = 0.044, OR = 0.721, 95% CI: 0.544-0.954). For rs510566, no significant differences were found in genotype frequencies, allele frequencies, or in any subgroup analysis (P > 0.05).
CONCLUSIONS: The rs642949 might be associated with susceptibility to PD. In contrast, no such association was found for the rs510566. Further fundamental research is warranted to investigate the PICALM gene in PD.