Hubungan Polimorfisme Val66met Gen Brain-Derived Neurotrophic Factor (BDNF) dengan Restless Leg Syndrome pada Pasien Penyakit Ginjal Kronik dengan Hemodialisis Reguler

Abstract

Background: Restless Legs Syndrome (RLS) is a common sensorimotor disorder among patients with chronic kidney disease (CKD) undergoing hemodialysis. Genetic factors, including the Val66Met polymorphism of the Brain-Derived Neurotrophic Factor (BDNF) gene, are suggested to contribute to RLS pathogenesis through impaired neuroplasticity and dopaminergic dysfunction. However, such associations have not been extensively studied in the Indonesian population. Objective: To investigate the association between the Val66Met polymorphism of the BDNF gene and the occurrence of RLS in CKD patients undergoing regular hemodialysis. Methods: This case-control study included 70 DNA samples from CKD patients at Rasyida Kidney Hospital, Medan—35 with RLS and 35 without. Genotyping was performed using the PCR-RFLP method. Statistical analyses included Chi-Square and logistic regression tests with a significance level of p < 0.05. Results: Most subjects were over 40 years old (95.7%) and female (60%). The Val66Met genotype distribution was dominated by Val/Met (50%), followed by Val/Val (37.1%) and Met/Met (12.9%). The Val allele was found in 62.14% and the Met allele in 37.85% of subjects. The Val/Met genotype showed a significant association with RLS (p < 0.001; OR = 7.333; 95% CI = 5.221–146.968). Multivariate analysis confirmed that age (p = 0.001; OR = 1.482; 95% CI = 1.333– 1.570) and BDNF polymorphism (p = 0.001; OR = 7.375; 95% CI = 4.392–12.837) were significant predictors of RLS, while sex and anemia were not statistically significant. Conclusion: The Val66Met polymorphism of the BDNF gene—particularly the Val/Met genotype—is significantly associated with increased risk of RLS among CKD patients undergoing regular hemodialysis. These findings support the potential role of BDNF as a genetic biomarker in the pathophysiology and management of RLS in chronic kidney disease populations. Keywords: Chronic kidney disease, hemodialysis, BDNF, Val66Met polymorphism, Restless Legs Syndrome.