Objective Brain-derived neurotrophic factor (BDNF) has been suggested to support the endurance and dopamine release of dopaminergic neurons. Its Val66Met polymorphism might modify Parkinson’s disease (PD) evolution, although evidence in Asian populations remains limited. This study aimed to explore how the BDNF rs6265 genotype is associated with the clinical characteristics and longitudinal progression patterns of PD patients in a Korean population.
Methods A total of 247 patients were enrolled and followed for a mean duration of 50.9±23.9 months. Baseline and/or periodic assessments captured motor severity, nonmotor burden, cognition, orthostatic stress, cardiac denervation, and presynaptic dopamine transporter availability. The repeated measures were manipulated to infer any genotypic differences in the trajectories of each clinical domain.
Results The genotype frequencies were 31.2% (77/247) for Val/Val carriers and 68.8% (170/247) for Met-allele carriers. Baseline clinical characteristics and presynaptic dopamine transporter availability were comparable between genotypes. Initially, Val homozygotes showed more preserved myocardial innervation and poorer nonfrontal cognitive performance. Longitudinal analyses demonstrated genotype-specific increases in motor and cognitive severity. Compared with Met-allele carriers, the homozygous Val group exhibited accelerated motor progression and a more rapid decline in the frontal domain after 3 years of follow-up.
Conclusion The differences in myocardial denervation at diagnosis, cognitive profiles, and motor progression might suggest a potential modulatory role of BDNF polymorphisms in PD progression in the Korean population.
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Commentary for “Longitudinal Implications of the BDNF rs6265 Polymorphism for Motor and Nonmotor Features of Parkinson’s Disease in the Korean Population” Sun Ju Chung Journal of Movement Disorders.2026; 19(2): 242. CrossRef
Objective A meta-analysis of locus-based genome-wide association studies recently identified a relationship between AXIN1 and Parkinson’s disease (PD). Few studies of Asian populations, however, have reported such a genetic association. The influences of rs13337493, rs758033, and rs2361988, three PD-associated genetic variants of AXIN1, were investigated in the present study because AXIN1 is related to Wnt/β-catenin signaling.
Methods A total of 2,418 individuals were enrolled in our Taiwanese cohort for analysis of the genotypic and allelic frequency. Polymerase chain reaction–restriction fragment length polymorphism analysis was employed for rs13337493 genotyping, and the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA) was used for rs758033 and rs2361988 genotyping in 672 patients with PD and 392 controls. Taiwan Biobank data of another 1,354 healthy controls were subjected to whole-genome sequencing performed using Illumina platforms at approximately 30× average depth.
Results Our results revealed that rs758033 {odds ratios [OR] (95% confidence interval [CI]) = 0.267 [0.064, 0.795], p = 0.014} was associated with the risk of PD, and there was a trend toward a protective effect of rs2361988 (OR [95% CI] = 0.296 [0.071, 0.884], p = 0.026) under the recessive model. The TT genotype of rs758033 (OR [95% CI] = 0.271 [0.065, 0.805], p = 0.015) and the CC genotype of rs2361988 (OR [95% CI] = 0.305 [0.073, 0.913], p = 0.031) were less common in the PD group than in the non-PD group.
Conclusion Our findings indicate that the rs758033 and rs2361988 polymorphisms of AXIN1 may affect the risk of PD in the Taiwanese population.
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AXIN1 Polymorphisms Potentially Modulate Parkinson’s Disease Susceptibility: A Cross-Sectional Study in Northern Han Chinese and White Populations Zhen Kong, Ran Yu, Chengqian Li, Qiqing He, Yuting Zhou, Xue Zhang, Yaqing Li, Anmu Xie, Binghui Hou Neurology and Therapy.2026; 15(1): 325. CrossRef
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