中国骨质疏松杂志

CYP11A1基因多态性与老年性骨质疏松性骨折相关性研究

Association between CYP11A1 gene polymorphism and osteoporotic fractures in the elderly

DOI：10.3969/j.issn.1006.7108.2017.03.005

英文关键词:CYP11A1 gene Polymorphism Osteoporosis Bone turnover markers

基金项目:北京市科技计划项目（Z131100002613002)

作者	单位
王其飞1 刘正1 刘家帮1 宫雁冰2 吴四军1 姚洪春1 张昆1 薛涛1 张光武1*	1. 北京大学首钢医院骨科，北京100144 2. 北京大学首钢医院中心实验室，北京100144

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中文摘要:

目的探讨CYP11A1基因rs900798位点多态性与老年性骨质疏松性骨折骨转换标志物的关系。方法研究对象为 121例老年性骨质疏松性骨折患者（骨折组），114例老年性骨质疏松症患者（对照组）。骨折组中胸椎骨折、腰椎骨折、胸腰椎骨折、股骨颈骨折、粗隆间骨折、肱骨近端骨折和桡骨远端例数分别为32例、40例、3例、19例、20例、4例和3例。采用 SNaPshot法进行SNP分型,化学发光法测定血清I型前胶原氨基端前肽（PINP)、I型胶原羧基端肽β特殊序列（β-CTX)浓度。计算两组等位基因频率、基因型频率并分析骨折组CYP11A1基因多态性与PINP、β-CTX的关系。结果两组rs900798 位点等位基因基因频率和基因型频率分布符合哈迪温伯格平衡。骨折组和对照组G、T等位基因频率分别为40. 1%、59. 9% 和38.2%、61.8%，差异无统计学意义（P>0.05);两组GG、GT、TT基因型频率分别为14.9%、50.4% 、34.7%和13.2%、50.0%、36. 8% ,差异无统计学意义（P>0.05)。骨折组和对照组血清PINP、β-CTX差异无统计学意义（P >0. 05)。骨折组中 GG、GT、TT基因型的PINP、β-CTX差异无统计学意义（P>0.05)。结论 CYP11A1基因rs900798位点多态性与老年性骨质疏松性骨折患者血清PINP、β-CTX无相关性。

英文摘要:

Objective To explore the relationship between the polymorphism of CYP11A1 gene rs900798 locus and bone turnover markers of osteoporotic fracture in the elderly. Methods The subjects included 121 senile osteoporotic fracture patients (fracture group) and 114 senile osteoporosis patients (control group). The number of fractures at thoracic vertebrae, lumbar vertebrae, thoracolumbar, femoral neck, intertrochanter, proximal humerus and distal radius were 32, 40, 3, 19, 20, 4 and 3，respectively. The SNPs were identified by SNaPshot. Serum procollagen I N-terminal propeptide (PINP) and procollagen type I carboxy terminal peptide beta special sequence (β-CTX) were examined by chemoluminescence. Allele frequency and genotype frequency were calculated. The relationships of the CYP11A1 gene polymorphism with PINP and β-CTX were analyzed. Results The rs900798 allele gene frequency and genotype frequency distribution in the two groups were in accordance with the Hardy Weinberg equilibrium. The G and T allele frequency in the fracture and control groups were 40. 1 % , 59. 9% and 38. 2% , 61. 8% , respectively, with no statistical difference (P >0.05). GG，GT and TT genotype frequency of the two groups were 14. 9% , 50. 4%，34. 7% and 13. 2% , 50. 0%，36, 8%，respectively, with no significant between group difference (P >0. 05). Both serum PINP and serum β-CTX were not significantly different between the two groups (P >0.05). In the fracture group, PINP and β-CTX were not significantly different between the GG, GT and TT genotypes (P >0.05). Conclusion The CYP11A1 gene rs900798 locus polymorphism is not associated with PINP and β-CTX in senile osteoporotic fracture.

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