Zhao Yanpeng, Zhang Lihai, Mao Zhi, Zhang Yahui, Su Xiuyun, Cao Yanxiang, Tang Peifu
Department of Orthopaedics, Chinese PLA General Hospital, Beijing, China (mainland).
Medical College, Nankai University, Tianjin, China (mainland).
Med Sci Monit. 2015 Dec 12;21:3875-9. doi: 10.12659/msm.895472.
BACKGROUND The purpose of the study was to investigate the correlation between rs4754 and rs6840362 polymorphisms of secreted phosphoprotein 1 (SPP1) gene and fracture risk. MATERIAL AND METHODS rs4754 and rs6840362 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 130 patients with fracture and 107 healthy controls matched with the former by age and sex. Hardy-Weinberg equilibrium (HWE) was assessed in the control group based on the genotype distributions of SSP1 poylmorphisms. The differences in genotype, allele, and haplotype frequencies between cases and controls were detected by the chi-square test, and the relative risk of fracture is expressed by odds ratio (OR) and 95% confidence interval (CI). The linkage disequilibrium (LD) and haplotype analyses were conducted with HaploView software. RESULTS The TT genotype in rs4754 had significant difference in patients with fracture and controls (10.77% and 4.59%, P=0.04) and the results showed that people carrying TT genotype of rs4754 were more susceptible to fractures than CC genotype carriers (OR=3.00, 95%CI=1.02-8.89). The T allele also had 1.54 times higher risk of fractures (OR=1.54, 95%CI=1.04-2.30), but this was not true for the rs6840362 polymorphism. LD between the 2 polymorphisms and haplotype C-T (rs6840362-rs4754) increased the susceptibility to fracture (OR=2.01, 95%CI=1.23-3.28). CONCLUSIONS SPP1 rs4754 polymorphism may be related to risk of fracture, but not rs6840362.
背景 本研究旨在探讨分泌型磷蛋白1（SPP1）基因的rs4754和rs6840362多态性与骨折风险之间的相关性。材料与方法 采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对130例骨折患者及107例年龄、性别相匹配的健康对照者进行rs4754和rs6840362基因分型。根据SSP1多态性的基因型分布在对照组中评估哈迪-温伯格平衡（HWE）。采用卡方检验检测病例组和对照组之间基因型、等位基因和单倍型频率的差异，骨折的相对风险用比值比（OR）和95%置信区间（CI）表示。使用HaploView软件进行连锁不平衡（LD）和单倍型分析。结果 rs4754的TT基因型在骨折患者和对照组之间存在显著差异（分别为10.77%和4.59%，P = 0.04），结果显示携带rs4754的TT基因型的人比CC基因型携带者更容易发生骨折（OR = 3.00，95%CI = 1.02 - 8.89）。T等位基因发生骨折的风险也高1.54倍（OR = 1.54，95%CI = 1.04 - 2.30），但rs6840362多态性并非如此。这两个多态性之间的LD和单倍型C-T（rs6840362 - rs4754）增加了骨折易感性（OR = 2.01，95%CI = 1.23 - 3.28）。结论 SPP1 rs4754多态性可能与骨折风险有关，但rs6840362并非如此。
