Over recent years, genome-wide association studies (GWAS) have allowed researchers to uncover hundreds of genetic variants associated with common diseases. However, the discovery of genetic variants through GWAS research represents just the first step in the challenging process of piecing together the complex biological picture of common diseases. To help speed the process, the National Human Genome Research Institute, is supporting new research in existing large epidemiology studies, all with a rich range of measures of health and potential disease, and many with long-term follow-up.

The focus of the new research is on how genetic variants initially identified through GWAS research are related to a person’s biological and physical characteristics, such as weight, cholesterol levels, blood sugar levels or bone density. Scientists will also examine how non-genetic factors, such as diet, medications and smoking, may interact with genetic factors or each other to influence health outcomes.

The information generated by this program will help guide other genomic and epidemiologic studies by defining the potentially wide-ranging effects of genetic differences among people. Additionally, it will lay the groundwork for laboratory experiments in cultured cells and other model systems to identify the precise biological mechanism affected by each genetic variant and how it interacts with other biological and environmental factors. Such information is vital to developing more individualized ways of preventing, diagnosing and treating common diseases.