Parkinsonism & related disorders · 2024
Vacuolar protein sorting 13 homolog C was associated with motor progression in Parkinson's disease.
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Guo Xin, Teng Bin, Ma Jianfang
Аннотация
INTRODUCTION: The SNP rs2414739 of Vacuolar protein sorting 13 homolog C(VPS13C) gene was identified to be linked with Parkinson's Disease (PD).
OBJECTIVES: Explore the clinical progression feature of PD patients with rs2414739 variant.
METHODS: Longitudinal data were obtained from the Parkinson's Progression Marker Initiative (PPMI) cohorts. Linear mixed models were used to test the effects of VPS13C with the progression of PD assessed by different scales.
RESULT: A total of 333 patients with PD were included and divided into rs2414739 carriers (n = 138) and noncarriers (n = 195). Patients with PD carrying VPS13C mutation had slower progression, assessed by total scores of MDS-UPDRS (II+III) (β = -1.834, p = 0.000, 95%CI: -2.767, -0.901) than noncarriers. The effect of VPS13C was significant both in the rate of change of UPDRS-II scores (β = -0.284, p = 0.028, 95%CI: -0.537, -0.031) and UPDRS-III scores (β = -0.894, p = 0.009, 95%CI: -1.558, -0.228). We further divided VPS13C carriers into heterozygous and homozygous carriers, and found that the rate of change of UPDRS(II+III) (β = -1.165, p = 0.039, 95%CI: -2.265,-0.062) scores and UPDRS-III scores (β = -9.521, p = 0.041, 95%CI: -18.524,-0.532) were significantly slow in heterozygous VPS13C carriers. There was only 20 homozygous VPS13C carriers, which was too small a sample to perform the analysis.
CONCLUSION: VPS13C was associated with slow motor progression in PD patients.
OBJECTIVES: Explore the clinical progression feature of PD patients with rs2414739 variant.
METHODS: Longitudinal data were obtained from the Parkinson's Progression Marker Initiative (PPMI) cohorts. Linear mixed models were used to test the effects of VPS13C with the progression of PD assessed by different scales.
RESULT: A total of 333 patients with PD were included and divided into rs2414739 carriers (n = 138) and noncarriers (n = 195). Patients with PD carrying VPS13C mutation had slower progression, assessed by total scores of MDS-UPDRS (II+III) (β = -1.834, p = 0.000, 95%CI: -2.767, -0.901) than noncarriers. The effect of VPS13C was significant both in the rate of change of UPDRS-II scores (β = -0.284, p = 0.028, 95%CI: -0.537, -0.031) and UPDRS-III scores (β = -0.894, p = 0.009, 95%CI: -1.558, -0.228). We further divided VPS13C carriers into heterozygous and homozygous carriers, and found that the rate of change of UPDRS(II+III) (β = -1.165, p = 0.039, 95%CI: -2.265,-0.062) scores and UPDRS-III scores (β = -9.521, p = 0.041, 95%CI: -18.524,-0.532) were significantly slow in heterozygous VPS13C carriers. There was only 20 homozygous VPS13C carriers, which was too small a sample to perform the analysis.
CONCLUSION: VPS13C was associated with slow motor progression in PD patients.