维生素D受体基因ApaⅠ多态性与终末期肝病患者骨代谢的相关性研究  

Association of Apa Ⅰ polymorphism of vitamin D receptor gene with bone metabolism in patients with end-stage liver disease

作　　者：陈琳[1] 盛正妍[1] 游利[1] 陈瑾瑜[1] 王煜非[1] 彭志海[1] 徐军明[1] 

机构地区：[1]上海交通大学附属第一医院骨质疏松科

出　　处：《中国骨质疏松杂志》2009年第1期40-43,31,共5页Chinese Journal of Osteoporosis

摘　　要：目的探讨维生素D受体（VDR）基因Apal位点多态性与终末期肝病患者骨代谢的关系。方法选择72例终末期肝病患者，并以50例原发性骨质疏松和骨量减少患者作为对照组。采用聚合酶链反应和限制性片段长度多态性技术（PCR-RFLP）检测VDR基因ApaⅠ位点多态性，双能X线吸收仪（DXA）检测腰椎（L1～4）及股骨颈骨密度（BMD），并检测骨代谢相关指标，包括甲状旁腺激素（PTH）、骨钙素（BGP）、血钙（Ca）、血磷（P）、尿钙（uCa）、尿肌酐（uCr）。结果①Apa Ⅰ多态性等位基因频率分布符合Hardy—Weinberg定律，终末期肝病组基因型分布为AA（12．5％）、Aa（34．7％）、aa（52．8％）；对照组基因型分布为AA（10．0％）、Aa（36．0％）、aa（54．0％）。基因型分布频率两组间差异无统计学意义（P〉0．05）。②终末期肝病组中，ApaⅠ基因型与L1～4及股骨颈BMD相关（P〈0．01），AA基因型L1-4及股骨颈的BMD显著高于aa型（P〈0．05）。对照组中，ApaⅠ基因型与L1-4及股骨颈BMD均无明显相关性。③终末期肝病组中，ApaⅠ基因型与BGP水平相关，AA基因型的BGP水平高于aa型（P〈0．05）；ApaⅠ基因型与PTH、血Ca、血P及uCa／Cr水平差异无统计学意义。结论终末期肝病患者VDR基因ApaⅠ位点多态性与BMD及BGP水平均相关，ApaⅠ位点多态性与终末期肝病患者骨代谢存在相关性。Objective To investigate the association of ApaⅠ polymorphism of vitamin D receptor （VDR） gene with bone metabolism in patients with end-stage liver disease. Methods The VDR genotype was determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in 72 patients with end-stage liver diseases and 50 patients with primary osteoporosis （OP） or osteopenia. Bone mineral density （BMD） at lumber spine 1 - 4（L1-4 ） and femoral neck （Neck） were measured by duel-energy X-ray absorptiometry （DXA）. The serum level of parathyroid hormone （PTH）, osteocalcin （ BGP）, calcium （ Ca）, phosphate （P）, urinary calcium （uCa） and urinary creatinine（uCr） were also detected in these patients. Results （1） Frequencies of aa, Aa and AA genotype were 52.78%, 34.72% and 12.50% in the end-stage liver disease group, and 54.00% , 36.00% and 10.00% in the control group, respectively. The allele frequencies of ApaⅠ polymorphism were in Hardy- Weinberg equilibrium. There was not significant difference in the frequency distribution of VDR genotype between two groups （P 〉 0.05）. （2） Significant association was found between VDR ApaⅠ genotype and BMD at L1-4 and Neck （P 〈 0.05） in the group of end-stage liver disease. Compared with aa genotype, AA genotype had significantlyhigher mean BMD at L1-4 and Neck （P 〈 0.05, P 〈 0.05）. Significant association was found between VDR ApaⅠ genotype and BMD at L1 -4 and Neck （ P 〈 0.05, P 〈 0.01 ） in subgroup of patients with osteoporosis or osteopenia. Compared with aa, Aa genotype had significantly higher mean BMD at L1-4 （ P 〈 0.05） and compared with Aa and aa, AA genotype had significantly higher mean BMD at Neck（ P 〈 0.01, P 〈 0.001 ）.No significant difference was found between ApaⅠ genotype and BMD at L1-4 and Neck in the control group. （3） Significant association was found between VDR Apa Ⅰ genotype and the serum level of BGP in the group of endstage liver diseas

关 键 词：受体 基因 骨密度 维生素D 肝性骨病 

分 类 号：R591.44[医药卫生—内科学]