Avila M, Prado C, Ventura MD, Mora C, Briones D, Valdez H, Hurtado ME, Lindholm B, Qureshi A, Castillo-Henkel C, and Paniagua R
Background: The influence of the Bsm1 polymorphism of the vitamin D receptor (VDR) gene on mineral and bone disorders in chronic kidney disease (CKD) is still under discussion. The aim of this study was to analyse the relationship between VDR polymorphism, bone mineral density (BMD), biochemical bone markers and clinical factors in women on peritoneal dialysis (PD) and haemodialysis (HD)., Methods: In a cross-sectional study, 197 women (42 +/- 10 years; 25% with diabetes mellitus (DM); body mass index (BMI) 25.26 +/- 4.77 kg/m(2)) treated by PD (72%) or HD (28%) underwent measurements of BMD (measured at the calcaneus by quantitative ultrasound; expressed as T- and Z-scores) and plasma total calcium (tCa), intact parathyroid hormone 1-84 (iPTH), phosphorus, albumin, glucose, osteoprotegerin (OPG), fetuin-A, intact osteocalcin-49 and N-MID fragment 1-43 aa (N-MID osteocalcin) N-terminal propeptide of type 1 procollagen (PINP) and C-terminal telopeptide-beta aspartic acid (BCL). DNA was extracted from peripheral blood. PCR products were digested with Bsm1 to analyse VDR polymorphism., Results: The Z-score of BMD was -1.1 +/- 1.03. According to the values of osteopenia (T-score = -1.0), patients with higher BMD were younger, had lower frequency of amenorrhoea and diabetes and had higher serum creatinine and fetuin levels as well as lower levels of PINP. In a stepwise multivariate logistics analysis, osteopenia was associated with presence of genotype BB+Bb (OR = 3.26, P < or = 0.003) and age (OR = 0.95, P = 0.050). According to the B allele, bb: n = 126 (64%) and BB+Bb: n = 71(36%), group bb had significantly higher mean Z-scores (-0.97 +/- 1.0 vs -1.3+/-0.92; P < or = 0.021)., Conclusions: The high frequency of osteopenia observed in female CKD patients on dialysis is associated with age and genetic predisposition as revealed by its association to the Bsm1 VDR polymorphism.