The completion of the Human Genome sequence1 has been accompanied by the rapid appearance of genetic association studies using large numbers of genetic markers to search for genetic variation underlying common, major health problems such as cardiovascular disease and cancer. Physicians will increasingly encounter articles in the literature analyzing screens of ever larger numbers of common genetic markers. An excellent example is the study of 280 single nucleotide polymorphisms (SNPs) in 24 venous thrombosis candidate genes reported by Smith and colleagues in this issue of JAMA.2 Such studies are currently focused on the role of genetic variation in candidate gene regions, but a “gold rush” now under way of unbiased genome-wide association studies (GWAS) using hundreds of thousands of SNPs will generate a vast number of potentially valid genetic associations. Clinicians and scientists alike will need to exercise care in distinguishing gold from fool's gold when interpreting the results of these studies. To do so requires an understanding of the rationale for large-scale studies of SNPs as well as important elements of study design and, in particular, major statistical considerations in the interpretation of results (see Box for list of terms commonly used in such studies).
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 14
Customize your page view by dragging & repositioning the boxes below.
More Listings atJAMACareerCenter.com >
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.