Hubungan Polimorfisme rs2762939 Gen CYP24A1 terhadap Kalsifikasi Vaskular pada Pasien Penyakit Ginjal Kronis dengan Hemodialisis Reguler

Abstract

Introduction: The serum level of vitamin D affects the process of vascular calcification, which is the hallmark of CKD-MBD as one of the complications from CKD patients with hemodialysis. The metabolism of vitamin D is related to CYP24A1 gene that encodes the enzyme 24-hydroxylase, which catalyzes the degradation of the active form of vitamin D via multiple pathways. Polymorphism in the genes involved in the vitamin D pathways, such as rs2762939, are linked to the level of serum vitamin D, which in turn affects the risk of vascular calcification. Methods: Case-control study was conducted in 46 hemodialysis patients with and without vascular calcification, respectively. The analysis of rs2762939 polymorphism uses PCR-RFLP procedure and electrophoresis in agarose 4%. Results: The frequency of vascular calcification in DM patients was higher than control groups (19; 82.6% vs 4; 17.4% respectively) and the frequency of vascular calcification in non-DM patients was lower than control groups (27; 39.1% vs 42; 60.9% respectively). There was a statistically significant association of the etiology from CKD with vascular calcification with a p value of 0.01 (p<0.05). The mutant C alleles were 0.774 times less likely to develop vascular calcification than the G alleles (OR= 0.774; p= 0.592; CI= 0.383-1.564). Conclusion: rs2762939 polymorphism of the CYP24A1 gene in CKD patients undergoing regular HD, particularly on the mutant C alleles, were less likely to develop vascular calcification than the G alleles but the differences were not statistically significant.