维生素D受体基因多态性与散发性特发性甲状旁腺功能减退症的相关性

The relationship between gene polymorphism of vitamin D receptor and sporadic idiopathic hypoparathyroidism

目的探讨维生素D受体(VDR)基因3′端BsmⅠ、ApaⅠ和TaqⅠ多态性与散发性特发性甲状旁腺功能减退症(SIH)的相关性,评价其与SIH患者生化指标及病情严重程度的关系。方法应用聚合酶链反应—限制性内切酶片段长度多态性分析(PCR-RFLP)确定106例SIH患者VDR基因型,测定血Ca、P、AKP、PTH水平,24 h尿Ca、P排量;记录患者智力减退、记忆力下降、癫痫发作、白内障和颅内钙化情况。结果VDR基因3′端多态性位点各等位基因频率如下:b 0.943,B 0.057,a 0.712,A 0.288,t 0.041,T 0.958,不同基因型患者生化指标和临床表现差异均无统计学意义(P>0.05)。结论VDR基因3′端多态性与SIH生化指标及病情严重程度无相关性。

Objective To investigate the relationship between polymorphisms of vitamin D receptor （VDR） gene 3＇end （Bsm 1, Apa I and Taq I） and sporadic idiopathic hypoparathyroidism （SIH）, and evaluate the relevance between VDR and severity of SIH. Methods To define the genotypes of 106 patients by polymerase chain reactionrestriction fragment length polymorphism （PCR-RFLP）. Genome DNA was extracted by QIAGEN DNA extraction kit from peripheral white blood cell. Vitamin D receptor genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism. Serum calcium, phosphorus, AKP, PTH and urinary. Ca, P levels were meas- ured. The clinical symptoms included intelligence withdraw, memory decline, episode of epilepsy, cataract and calcification of cerebral were recorded. Results In our study, the frequencies of the genotypes of vitamin D receptor gene 3＇end polymorphism were as follows： b 0. 943, B 0. 057, a 0. 712, A 0. 288, t 0.041, T 0. 958. No differences of serum Ca, P, AKP, PTH and urinary Ca and clinical manifestations were found between different genotypes of patients （ P 〉 0.05 ）. Condusion There was no significant relativity between polymorphisms of VDR gene 3＇end and the severity of SIH.