Selvaraman Nagamani, Shanmuga Perumal M, Ankit Srivastava, kh. Dhanachandra Singh, Ritushree Kukreti and Karthikeyan Muthusamy
Background and Objectives: Vitamin D Receptor (VDR) gene polymorphism has long been known for its association with Chronic Kidney Disease (CKD). We aimed to investigate the potential role of VDR gene polymorphisms in CKD patients.
Design and Methods: The association of VDR gene polymorphisms in CKD patients (N=147; males =100 (68.03%) and females=47 (31.97%)) is investigated in this study. The patient samples were compared with healthy control subjects (N=210; males: 130 (61.90%) and females: 80 38.10%)). Genotyping was carried out by polymerase chain reaction–restriction fragment length polymorphism method (PCR_RFLP). All the tatistical analysis was carried out using the SPSS and PLINK-software.
Results: A significant difference in the genotype frequency of ApaI-“CC” (p=0.015, OR=0.51, 95% CI=0.29–0.91) was observed in the patients vs. control subjects. Further, we observed that individuals with a/T haplotype were at a risk (0.25-fold higher; 95% CI=0.09–0.67). The serum calcium levels were increase in the patients with ApaI (AC+CC) variants, but were significantly decreased in the AA variant (9.6 ± 1.16 vs. 9.07 ± 0.85 mg/dL, p=0.0005). The serum Hb levels were also increase in the patients with TaqI (TT) variants, but were significantly decreased in the (TC+CC) variants (8.36 ± 2.41 vs. 7.86 ± 2.20 mg/dL, p=0.03). We also observed that the “AC” genotype of the ApaI polymorphism when present in a combination with the “TC” genotype of TaqI polymorphism conferred a 1.4 times higher risk (38/54) for developing CKD using MDR analysis.
Interpretations and Conclusions: ApaI gene polymorphism of the VDR gene is significantly associated with CKD patients and the ApaI “CC” variant could be a risk allele for CKD patients in South Indian population.
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