Meta-analysis of molecular association studies: Vitamin D receptor gene polymorphisms and BMD as a case study
Meta-analysis of molecular association studies: Vitamin D receptor gene polymorphisms and BMD as a case study
复制标题
DOI：
10.1359/jbmr.0301265
复制
发表时间：
2004-03-01
影响因子：
6.2
通讯作者：
Attia, J
中科院分区：
文献类型：
--
作者：
Thakkinstian, A;D'Este, C;Attia, J
随着分子和遗传流行病学的兴起，分子关联研究越来越普遍，然而，这些研究的荟萃分析一直是一个被忽视的领域。本研究对维生素D受体（VDR）基因多态性与BMD的关系进行了荟萃分析。我们还强调需要解决的方法问题。引言：随着分子和遗传流行病学的兴起，分子关联研究越来越普遍，然而，这些研究的荟萃分析一直是一个被忽视的领域。本研究进行了荟萃分析的维生素D受体（VDR）基因多态性和BMD/骨质疏松症和突出的方法issues.Materials和方法：发表于1994年至2001年的研究，通过Medline使用PubMed软件确定。还审查了检索到的文章的参考文献列表。如果符合条件的论文信息不足，我们会通过邮件（最多三次邮件）联系作者以获取更多信息。任何观察性研究，测试VDR BsmI基因型与成年女性股骨颈或脊柱BMD或骨质疏松症之间的关联，都被纳入审查。数据提取独立的两个审查员（AT和JA）使用标准化的数据提取form.Results：B等位基因与脊柱BMD显着相关，它似乎遵循一个隐性模型，与BB基因型具有较低的BMD比BB/BB基因型在基线，这导致随着时间的推移，更大的骨矿物质丢失。突出的方法学教训包括需要检查Hardy-Weinberg平衡和探索异质性的重要性，汇集数据的方式是敏感的遗传模型，避免多重comparation.Conclusion：随着分子关联研究的扩散，将有越来越多的需要量化与遗传多态性相关的风险的大小。这可能需要元分析方法，而元分析强调了一些需要解决的方法学问题。
With the rise of molecular and genetic epidemiology, molecular association studies are increasingly common; however, meta-analysis of these studies has been a neglected area. This study performed a meta-analysis of the association of the vitamin D receptor (VDR) gene polymorphisms and BMD. We also highlight methodological issues that need to be resolved.Introduction: With the rise of molecular and genetic epidemiology, molecular association studies are increasingly common; however, meta-analysis of these studies has been a neglected area. This study performed a meta-analysis of the association of vitamin D receptor (VDR) gene polymorphisms and BMD/osteoporosis and highlights methodological issues.Materials and Methods: Studies published from 1994 to 2001 were identified through Medline using PubMed software. The reference lists of the articles retrieved were also reviewed. Where eligible papers had insufficient information, we contacted authors by mail (up to three mailings) for additional information. Any observational study, which tested the association between VDR BsmI genotypes and either BMD or osteoporosis at the femoral neck or spine in adult women, was included in the review. Data were extracted independently by two reviewers (AT and JA) using a standardized data extraction form.Results: The B allele was significantly associated with BMD at the spine; it seemed to follow a recessive model, with the BB genotype having lower BMD than Bb/bb genotypes at baseline, which led to greater bone mineral loss over time. Highlighted methodological lessons included the need to check Hardy-Weinberg equilibrium and the importance of exploring heterogeneity, pooling data in a manner that is sensitive to genetic models, and avoiding multiple comparisons.Conclusion: With the proliferation of molecular association studies, there will be an increased need to quantify the magnitude of the risk associated with genetic polymorphisms. This will likely entail meta-analytic methods, and this meta-analysis highlights some of the methodological issues that will need to be resolved.