维生素D受体基因多态性与肾性骨病关系的研究

目的：探讨慢性肾功能衰竭（CRF）患者继发性甲状旁腺功能亢进（SHPT）与维生素D受体（VDR）基因多态性、骨钙素（OC）之间关系的关系。方法：PCR法检测40例正常对照组及80例CRF患者的VDR基因多态性、ELISA法检测血清全段甲状旁腺素(iPTH)与OC水平。结果：对照组与CRF组VDR基因分布频率基本相同，但CRF患者B等位基因少于对照组，b等位基因多于对照组。在CRF的高iPTH组，bb型与b等位基因高于对照组、正常iPTH组与低iPTH组。IPTH与OC呈正相关。结论：CRF患者的iPTH水平增高者约占50％，而此型患者以bb型和b等位基因频率表达增多为主。OC与iPTH呈明显正相关，说明iPTH在促进肾性骨病的发生发展中起重要作用。VDR基因多态性与肾性骨病发生可能有一定关系。

Study of Relationship Between Vitamin D Receptor Genetic Polymorphism and Renal Osteodystrophy

Objective: Our aim was to study the relationship between secondary hyperparathyroidism and genetic polymorphism of vitamin D receptor (VDR) and osteocalcin (OC) in chronic renal failure (CRF). Methods: We investigated the genetic polymorphism of VDR and serum intact parathyroid hormone (iPTH) in 80 patients with CRF and 40 healthy people as control group. The genetic polymorphism of VDR was measured by PCR method, and iPTH and OC were measured by ELISA. Results: The distribution frequency of VDR was similar in CRF and control group. The B allele in CRF was less than control group, and b allele in CRF was more than that in control group. In those patients with increased iPTH, the bb genotype and b allele expressed more than those with normal and low iPTH. There was a positive correlation between iPTH and OC. Conclusion: About 50% patients with CRF had increased iPTH. Most of these patients had high frequency of expression of bb genotype and b allele. The OC has obviously positive correlation with iPTH, which illustrates that the iPTH has an important effect on the occurrence and development of real osteodystrophy.