Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Faculty of New Sciences and Technology, University of Tehran, Tehran, Iran.
Cell J. 2015 Summer;17(2):187-92. doi: 10.22074/cellj.2016.3711. Epub 2015 Jul 11.
Population-based genetic association studies have proven to be a powerful tool in identifying genes implicated in many complex human diseases that have a huge impact on public health. An essential quality control step in such studies is to undertake Hardy-Weinberg equilibrium (HWE) calculations. Deviations from HWE in the control group may reflect important problems including selection bias, population stratification and genotyping errors. If HWE is violated, the inferences of these studies may thus be biased. We therefore aimed to examine the extent to which HWE calculations are reported in genetic association studies published in Cell Journal(Yakhteh)(Cell J). Using keywords pertaining to genetic association studies, eleven relevant articles were identified of which ten provided full genotypic data. The genotype distribution of 16 single nucleotide polymorphisms (SNPs) was re-analyzed for HWE by using three different methods where appropriate. HWE was not reported in 60% of all articles investigated. Among those reporting, only one article provided calculations correctly and in detail. Therefore, 90% of articles analyzed failed to provide sufficient HWE data. Interestingly, three articles had significant HWE deviation in their control groups of which one highly deviated from HWE expectations (P= 9.8×10(-12)). We thus show that HWE calculations are under-reported in genetic association studies published in this journal. Furthermore, the conclusions of the three studies showing significant HWE in their control groups should be treated cautiously as they may be potentially misleading. We therefore recommend that reporting of detailed HWE calculations should become mandatory for such studies in the future.
基于人群的遗传关联研究已被证明是识别与许多复杂人类疾病相关基因的有力工具，这些疾病对公共健康有重大影响。在这类研究中，一个重要的质量控制步骤是进行 Hardy-Weinberg 平衡（HWE）计算。对照组中偏离 HWE 可能反映了重要问题，包括选择偏差、群体分层和基因分型错误。如果违反了 HWE，这些研究的推论可能会产生偏差。因此，我们旨在研究 HWE 计算在《细胞杂志》（Yakhteh）（Cell J）发表的遗传关联研究中报告的程度。使用与遗传关联研究相关的关键词，确定了 11 篇相关文章，其中 10 篇提供了完整的基因型数据。使用三种不同的方法对 16 个单核苷酸多态性（SNP）的基因型分布进行了重新分析，以进行 HWE。在所有调查的文章中，有 60%没有报告 HWE。在报告 HWE 的文章中，只有一篇文章提供了正确和详细的计算。因此，分析的 90%的文章没有提供足够的 HWE 数据。有趣的是，三篇文章的对照组存在显著的 HWE 偏离，其中一篇偏离 HWE 预期的程度很高（P=9.8×10(-12)）。因此，我们表明，在该杂志发表的遗传关联研究中，HWE 计算的报告不足。此外，在其对照组中显示出显著 HWE 的三篇研究的结论应谨慎对待，因为它们可能具有潜在的误导性。因此，我们建议在未来的此类研究中，应强制报告详细的 HWE 计算。
