Association of collagen Iα 1 Sp1 polymorphism with the risk of prevalent fractures:: A meta-analysis
Association of collagen Iα 1 Sp1 polymorphism with the risk of prevalent fractures:: A meta-analysis
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DOI：
10.1359/jbmr.2001.16.9.1586
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发表时间：
2001-09-01
影响因子：
6.2
通讯作者：
Ioannidis, JPA
中科院分区：
文献类型：
--
作者：
Efstathiadou, Z;Tsatsoulis, A;Ioannidis, JPA
几项研究已经讨论了胶原蛋白I α 1（COLIA 1）基因的Sp1多态性对骨折患病率的影响。结果并不完全一致，是否这种多态性与骨折风险。为了澄清这种不确定性，我们进行了一项荟萃分析，包括13项合格的研究，3641例受试者。COLIA 1 Sp1基因多态性与骨折发生率呈剂量-反应关系。通过随机效应计算，SS杂合子与SS纯合子的风险为1.25倍（95%CI，1.09-1.45），SS纯合子与SS纯合子的风险为1.68倍（95%CI，1.35-2.10），SS纯合子与SS杂合子的风险为1.35倍（95%CI，1.04-1.75）。这三种效应估计值存在中度异质性（异质性p值分别为0.17、0.16和0.08）。当分析仅限于考虑椎骨骨折的研究时，Spl多态性效应可能更大（合并风险比[RR]分别为1.30、2.07和1.46）。相反，在平均患者年龄大于或等于65岁的研究中，Sp 1多态性效应往往小于平均年龄较年轻患者的研究，但差异并不显著。我们估计欧洲/美国人群中s等位基因导致的骨折的总平均归因分数（AF）为9.4%。荟萃分析表明，Sp1多态性在骨折风险的调节中起着重要作用;然而，在未来的研究中，澄清种族、年龄组和骨骼部位之间的潜在异质性可能很重要。需要非常大的研究或荟萃分析来记录骨折风险的细微遗传差异。
Several studies have addressed the effect of the Sp1 polymorphism of the collagen I alpha 1 (COLIA1) gene on the prevalence of fractures. The results are not in full agreement on whether this polymorphism is associated with fracture risk. To clarify this uncertainty, we performed a meta-analysis including 13 eligible studies with 3641 subjects. The COLIA1 Sp1 polymorphism showed a dose-response relationship with the prevalence of fractures. The risk was 1.25-fold (95% Cl, 1.09-1.45) in Ss heterozygotes versus SS homozygotes, 1.68-fold (95% CI, 1.35-2.10) in ss homozygotes versus SS homozygotes, and 1.35 (95% Cl, 1.04-1.75) for ss homozygotes versus Ss heterozygotes by random effects calculations. There was modest heterogeneity for these three effect estimates (p value for heterogeneity, 0.17, 0.16, and 0.08, respectively). The Spl polymorphism effects possibly were larger when the analysis was limited to studies considering only vertebral fractures (pooled risk ratios [RR], 1.30, 2.07, and 1.46, respectively). Conversely, the Sp 1 polymorphism effects tended to be smaller in studies with mean patient age greater than or equal to 65 years than in studies with younger patients on average, but the differences were not formally significant. We estimated the total average attributable fraction (AF) of fractures due to the s allele in European/U.S. populations as 9.4%. The meta-analysis suggests an important role for the Sp1 polymorphism in the regulation of fracture risk; however, potential heterogeneity across ethnic groups, age groups, and skeletal sites may be important to clarify in future studies. Very large studies or meta-analyses are required to document subtle genetic differences in fracture risk.