Phenome-wide association studies (PheWAS) offer a complementary approach to GWAS and the means to unveil existing interrelationships across traits and identify genetic variants exhibiting pleiotropic effects. This approach involves simultaneous assessment of association between genetic variants and a diverse set of phenotypes. PheWAS enable researchers to consider multiple phenotypes, and connections among the traits, within the same study. Large and diverse sets of phenotypes can be explored, including disease outcomes as well as intermediate, quantitative phenotypes (such as lipid or iron levels). Considering relationships between SNPs, disease outcomes, and intermediate phenotypes can help to shed light on as yet undiscovered genetic etiology and on the intermediate components that lead to disease.
Ludwigshafen Risk and Cardiovascular Health Study (LURIC) cohort is a prospective cohort assessing the genetic risk factors of cardiovascular disease and other associated phenotypes, such as diabetes. It contains genome-wide genetic data, clinical and pharmacological measurements, and disease diagnoses; it is ideal for phenome-wide or genome-wide assessments or interaction studies. Previous work by the Hall lab utilized this cohort in two PheWAS, finding numerous associations between genetic loci and fatty acid phenotypes.
This work is supported by the USDA National Institute of Food and Agriculture and Hatch Appropriations under Project #PEN04275 and Accession #1018544