Department of Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey
Department of Medical Genetics, Düzen Laboratories Group, İstanbul, Turkey
Turk J Med Sci. 2021 Apr 30;51(2):802-812. doi: 10.3906/sag-1911-156.
BACKGROUND/AIM: Bone disease is one of the most prominent complications after kidney transplantation. Bone diseases include osteoporosis, persistent secondary hyperparathyroidism, and avascular necrosis (AVN). We investigated the relationship between the polymorphisms of the vitamin D receptor (VDR) gene and bone diseases occurring after kidney transplantation.
The study consists of 234 kidney allograft recipients with a minimum follow-up of five years after kidney transplantation. Patients with glomerular filtration rates less than 30 mL/min/1.73m2, a history of parathyroidectomy, bisphosphonate use pre- or post-transplantation, and cinacalcet use posttransplantation excluded. We evaluated associations between the polymorphisms of the VDR gene (BsmI, TaqI, ApaI, FokI, and Cdx2), the first-year bone mineral density (BMD) scores, persistent secondary hyperparathyroidism, and AVN.
Patients with low BMD scores were significantly younger (P = 0.03) and had higher intact parathormone (iPTH) levels (P = 0.03). Cdx2 TT genotype significantly increases the risk of low BMD scores (OR: 3.34, P = 0.04). Higher phosphate levels were protective against abnormal BMD scores (OR: 0.53; P = 0.03). Patients with persistent hyperparathyroidism had significantly longer dialysis vintage and higher pretransplantation iPTH levels (P = 0.02 and P < 0.001, respectively). Cdx2, CT/TT, and ApaI CA/AA genotypes significantly increase the risk of persistent hyperparathyroidism (OR: 6.81, P < 0.001, OR: 23.32, P < 0.001, OR:4.01, P = 0.02, and OR: 6.30, P = 0.01; respectively). BsmI CT/TT genotypes were found to increase AVN risk with an HR of 3.48 (P = 0.03). Higher hemoglobin levels were also found to decrease AVN risk with an HR of 0.76 (P = 0.05).
Certain VDR gene polymorphisms are associated with a higher risk for bone diseases after kidney transplantation.
背景/目的：骨骼疾病是肾移植后最显著的并发症之一。骨骼疾病包括骨质疏松症、持续性甲状旁腺功能亢进症和骨坏死（AVN）。我们研究了维生素 D 受体（VDR）基因多态性与肾移植后发生的骨骼疾病之间的关系。
本研究包括 234 例肾移植受者，肾移植后至少随访 5 年。排除肾小球滤过率<30mL/min/1.73m2、甲状旁腺切除术史、移植前或移植后使用双膦酸盐、移植后使用西那卡塞的患者。我们评估了 VDR 基因（BsmI、TaqI、ApaI、FokI 和 Cdx2）多态性、第 1 年骨矿物质密度（BMD）评分、持续性甲状旁腺功能亢进症和 AVN 之间的关联。
低 BMD 评分的患者显著更年轻（P=0.03），且甲状旁腺激素（iPTH）水平更高（P=0.03）。Cdx2 TT 基因型显著增加低 BMD 评分的风险（OR：3.34，P=0.04）。较高的磷酸盐水平对异常 BMD 评分有保护作用（OR：0.53；P=0.03）。持续性甲状旁腺功能亢进症患者的透析时间明显更长，移植前 iPTH 水平更高（P=0.02 和 P<0.001）。Cdx2、CT/TT 和 ApaI CA/AA 基因型显著增加持续性甲状旁腺功能亢进症的风险（OR：6.81，P<0.001，OR：23.32，P<0.001，OR：4.01，P=0.02，OR：6.30，P=0.01；分别）。BsmI CT/TT 基因型与 AVN 风险增加相关，HR 为 3.48（P=0.03）。较高的血红蛋白水平也降低了 AVN 的风险，HR 为 0.76（P=0.05）。
某些 VDR 基因多态性与肾移植后骨骼疾病的发生风险增加有关。
