University Department of Chemistry, University Hospital "SESTRE MILOSRDNICE", Zagreb, Croatia.
Clin Chem Lab Med. 2010 Dec;48 Suppl 1:S115-8. doi: 10.1515/CCLM.2010.366. Epub 2010 Nov 5.
Genetic association studies explore the association between genetic polymorphisms and a certain trait, disease or predisposition to disease. It has long been acknowledged that many genetic association studies fail to replicate their initial positive findings. This raises concern about the methodological quality of these reports. Case-control genetic association studies often suffer from various methodological flaws in study design and data analysis, and are often reported poorly. Flawed methodology and poor reporting leads to distorted results and incorrect conclusions. Many journals have adopted guidelines for reporting genetic association studies. In this review, some major methodological determinants of genetic association studies will be discussed.
遗传关联研究探讨遗传多态性与特定特征、疾病或疾病易感性之间的关联。长期以来，人们一直认为许多遗传关联研究未能复制其最初的阳性发现。这引起了人们对这些报告的方法学质量的关注。病例对照遗传关联研究在研究设计和数据分析中经常存在各种方法学缺陷，并且往往报告得很差。有缺陷的方法和不良的报告导致结果扭曲和结论错误。许多期刊都采用了遗传关联研究报告的指南。在这篇综述中，将讨论遗传关联研究的一些主要方法学决定因素。
