Unidad de Investigación Médica en Enfermedades Nefrológicas, Hospital de Especialidades, CMN SXXI, Instituto Mexicano del Seguro Social, México City, México.
Nephrol Dial Transplant. 2010 Jul;25(7):2259-65. doi: 10.1093/ndt/gfq019. Epub 2010 Feb 2.
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).
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.
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).
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.
维生素 D 受体（VDR）基因 Bsm1 多态性对慢性肾脏病（CKD）患者矿物质和骨代谢紊乱的影响仍存在争议。本研究旨在分析 VDR 多态性、骨密度（BMD）、生化骨标志物与腹膜透析（PD）和血液透析（HD）女性患者临床因素之间的关系。
采用横断面研究，纳入 197 名女性（42±10 岁；25%合并糖尿病；BMI 25.26±4.77kg/m2），其中 PD 治疗者 72%，HD 治疗者 28%，检测跟骨定量超声 BMD（以 T-和 Z-评分表示）及血浆总钙（tCa）、全段甲状旁腺素 1-84（iPTH）、磷、白蛋白、葡萄糖、护骨素（OPG）、胎球蛋白-A、I 型前胶原 N 端肽（PINP）、N 端中段骨钙素（N-MID osteocalcin）、I 型胶原 C 端肽（BCL）。提取外周血 DNA，PCR 产物用 Bsm1 酶切分析 VDR 多态性。
BMD 的 Z-评分为-1.1±1.03。根据骨质疏松症（T-评分=-1.0）的标准，BMD 较高的患者更年轻，闭经和糖尿病的发生率更低，血清肌酐和胎球蛋白水平更高，PINP 水平更低。多因素逐步逻辑回归分析显示，骨质疏松症与基因型 BB+Bb（OR=3.26，P<0.003）和年龄（OR=0.95，P=0.050）有关。根据 B 等位基因，bb 基因型者 126 例（64%），BB+Bb 基因型者 71 例（36%），bb 组平均 Z 评分显著更高（-0.97±1.0 比-1.3±0.92；P<0.021）。
本研究发现，透析女性 CKD 患者骨密度降低发生率高，与年龄和遗传易感性有关，这与其与 VDR Bsm1 多态性的相关性有关。
