Genetic Association Studies
The widespread availability of DNA from large population studies, the development of rapid throughput genotyping assays, and the identification of numerous polymorphisms in genes of interest make it easier to perform genetic association studies in humans. We consider these studies appropriate areas of research in relation to atherosclerosis, thrombosis, and vascular biology. In this issue, Drs Almasy and MacCluer have prepared an editorial, “Association Studies of Vascular Phenotypes: How and Why?” which is intended to provide guidance in understanding and interpreting association studies.
We, like other journals, are struggling with criteria for acceptance and publication of genetic association studies. For example, the Journal of Clinical Investigation indicates in instructions to authors that “some categories of manuscripts are unlikely to be accepted unless there are exceptional reasons.” Among the categories listed are “genetic linkage analysis or association studies related to complex disorders, including diabetes, atherosclerotic heart disease, hypertension, and autoimmunity.” In contrast, we have chosen to publish articles in this area of research that receive a high priority for publication.
In this issue of Arteriosclerosis, Thrombosis, and Vascular Biology is an editorial by Dr Robert Hegele, which is intended to provide guidance for authors who are considering submission of genetic association studies to the journal. When we invited Dr Hegele to prepare the editorial, we expected a lively debate. We asked six reviewers, including overseas editors of ATVB, to evaluate the editorial. Comments ranged from a concern that we would open a floodgate to association studies, to a concern that, if all criteria for publication were met, genetic association studies would effectively be eliminated from the Journal. Our hope is that we will achieve a middle ground and that the journal will publish excellent association studies that will be of interest and value to our scientific community.
We have two goals for the editorial by Dr Hegele. First is to provide guidance to authors. The editorial, however, should not be viewed as a binding contract that establishes criteria for publication. Reviewers and editors still will need to provide a judgment about priority for publication, which is subjective. We expect, however, that the editorial will be of value in achieving a broad understanding of criteria for publication of association studies. The second goal of the editorial is to stimulate an exchange of ideas. We will be pleased to consider for publication letters to the editor that address issues raised by Dr Hegele’s editorial.