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| PTCH1基因rs28377268多态性与骨质疏松性椎体压缩骨折骨代谢标志物的相关性研究 |
| The association between rs28377268 polymorphism of PTCH1 gene and bone metabolic markers in osteoporotic vertebral compression fractures |
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| DOI：10.3969/j.issn.1006.7108.2018.04.009 |
| 中文关键词: PTCH1基因 多态性 骨质疏松 骨代谢标志物 |
| 英文关键词:PTCH1 gene Polymorphism Osteoporosis Bone metabolic markers |
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| 中文摘要: |
| 目的 探讨PTCH1基因rs28377268位点多态性与骨质疏松性椎体压缩骨折患者骨代谢标志物的关系。方法 选取2016年1月至2016年6月我科脊柱组收治的骨质疏松性椎体压缩骨折患者（骨折组）和脊柱退行性病变骨质疏松患者（对照组）各80例。采用SNaPshot法进行SNP分型，化学发光法测定骨代谢标志物：骨钙素（osteocalcin, OC）、Ⅰ型胶原羧基端肽β特殊序列(beta-crosslaps of type I collagen cross-linked C-telopeptide, β-CTX)、Ⅰ型前胶原氨基端前肽（procollagen I N-terminal propeptide, P1NP）、25-羟维生素D（25-hydroxyvitamin D,25(OH)D）、甲状旁腺激素（parathyroid hormone, PTH）浓度。比较两组等位基因频率、基因型频率分布及两组骨代谢标志物浓度差异，并分析PTCH1基因rs28377268位点多态性与骨代谢标志物浓度的关系。结果 骨折组和对照组G、T等位基因频率均为80%、20%，两组GG、GT、TT基因型频率分别为66.25%、27.50%、6.25%和62.50%、35.00%、2.50%，无统计学意义（P>0.05）。骨折组中血清OC、PINP、β-CTX 及25(OH)D浓度较对照组均无统计学意义，而PTH浓度明显高于对照组（P＜0.05）。血清OC、PINP、β-CTX 及25(OH)D 浓度在GG、GT、TT3种基因型之间亦无统计学意义（P＞0.05），血清PTH浓度在GT、TT基因型中均高于GG基因型，其中TT基因型显著高于GG、GT基因型（P＜0.05）。结论 PTCH1基因rs28377268位点在骨质疏松患者中G、T等位基因的表达频率分别为80%、20%，rs28377268-T等位基因高表达可能间接升高血清PTH浓度，促进骨质疏松发生，增加椎体脆性骨折风险。 |
| 英文摘要: |
| Objective To explore the relationship between the rs28377268 polymorphism of PTCH1 Gene and bone metabolic markers in osteoporotic vertebral compression fractures. Methods Patients of our department including 80 patients with osteoporotic vertebral compression fractures (Fracture group) and 80 osteoporotic patients with spinal degenerative diseases (Control group) were enrolled into the study from January 2016 to June 2016. The SNPs were identified by SNaPshot. Plasma concentrations of osteocalcin (OC), beta-crosslaps of type I collagen cross-linked C-telopeptide (β-CTX), procollagen I N-terminal propeptide (P1NP), 25-hydroxyvitamin D (25 (OH) D) and parathyroid hormone (PTH) were determined by Chemiluminescence method. Allele frequency, genotype frequency and the concentration of bone metabolites in the two groups were compared, and the relationship between the polymorphism of rs28377268 and bone metabolic markers was analyzed. Results The G and T allele frequency in both groups were 80% and 20%, respectively, and the genotype frequencies of GG, GT and TT in the two groups were 66.25%, 27.50%, 6.25% and 62.50%, 35.00% and 2.50%, respectively, with no significant between group differences (P > 0.05). There were no significant differences in the concentrations of OC, PINP, β-CTX and 25 (OH) D between the fracture group and control group, however serum PTH concentration was significantly higher in the fracture group than that in the control group (P < 0.05). There were no significant differences in serum OC, PINP, β-CTX and 25 (OH) D concentrations between GG, GT and TT genotypes (P > 0.05), but PTH was higher in GT and TT genotypes than in GG genotype, and TT genotype had significantly higher PTH than GG and GT genotypes (P < 0.05). Conclusion The G and T allele frequencies of rs28377268 in osteoporosis patients were 80% and 20%, respectively. The high expression of rs28377268-T allele could increase serum PTH concentration, promote osteoporosis, and increase susceptibility of vertebral fragility fractures. |
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