维持性腹膜透析患者维生素D受体基因分布频率与骨密度相关性探讨

Studies on the relationship of vitamin D receptor gene distribution and bone mineral density in pa- tients with maintenance peritoneal dialysis

目的探讨维持性腹膜透析患者人群中维生素D受体（VDR）基因型分布频率及VDR基因BsmI位点与维持性腹膜透析患者骨密度相关性。方法采用病例对照研究方法，以82例维持性腹膜透析患者为病例组，与病例组年龄、性别成组匹配的80例健康人作为对照组。采用PCR-限制性片段长度多态性（PCR—RFLP）法对两组参与者的VDR基因基因型进行分型，并计算其分布频率。应用全自动生化分析仪和双能x线吸收骨密度仪测量病例组患者的血清学指标和骨密度指标。采用SPSS19．0进行数据统计和分析。结果病例组与正常对照组之间的VDR基因组分布频率之间差异无统计学意义（P〉0．05）。病例组血清生化结果显示各基因型的血磷、碱性磷酸酶（ALP）和甲状旁腺激素（PrH）差异无统计学意义（P〉0．05）；但BB基因型患者的血钙与bb基因型比较差异有统计学意义（P〈0．05）。病例组双能x线吸收骨密度仪测量结果显示bb基因型患者骨密度（BMD）指标和T值最低，而BB基因型患者最高，且3组基因型患者骨密度指标之间的差异具有统计学意义（P〈0．05）。结论维持性腹膜透析患者的VDR基因型分布频率与健康正常人之间没有差异，但VDR基因BsmI位点与维持性腹膜透析患者的骨密度之间具有一定关联。

Objective To explore frequency distribution of vitamin D receptor （VDR） genotype and the correlations between polymorphism of VDR gene Bsm I sites and bone mineral density in the patients undergoing maintenance peritoneal dialysis. Methods A case-control study was conducted based on 82 pa- tients with maintenance peritoneal dialysis and 80 healthy people. The frequency distribution of VDR geno- type in two groups was detected and analyzed by polymerase chain reaction-restriction fragment length poly- morphism （PCR-RFLP）. Serum biochemistry and bone mineral density of the patients undergoing mainte- nance peritoneal dialysis were detected by dual energy X-ray absorption （DEXA） and automatic biochemical analyzer, respectively. All data was analyzed with SPSS 19.0 software. Results The frequency distribution of VDR genotype between case group and control group had no significant difference （ P 〉 0. 05 ）. The ser- um biochemical index such as Ca, P, alkaline phosphatase （ALP） and parathyroid hormone （PTH） ] of patients with maintenance peritoneal dialysis had no significant difference among three VDR genotypes（ P 〉 0. 05）. Compared to VDR bb genotype, the serum Ca was significantly higher in VDR BB genotype （P 〈 0. 05 ）. The bone mineral density （BMD） and T-Score of patients with VDR BB genotype were the lowest, the BB genotype was the highest, and the difference was statistically significant among three genotypes （ P 〈 0. 05）. Conclusions The frequency distribution of VDR genotype between case group and control group had no significant difference. However, there is a correlation between VDR gene BsmI sites and bone min- eral density of maintenance peritoneal dialysis patients.