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A Framework to Decipher the Genetic Architecture of Combinations of Complex Diseases: Applications in Cardiovascular Medicine by Yin, Liangying; Chau, Carlos Kwan-long; Lin, Yu-Ping; Sham, Pak-Chung; So, Hon-Cheong is a scholarly article available to read on EtoBox.

What is A Framework to Decipher the Genetic Architecture of Combinations of Complex Diseases: Applications in Cardiovascular Medicine about?

Genome-wide association studies(GWAS) have proven to be highly useful in revealing the genetic basis of complex diseases. At present, most GWAS are studies of a particular single disease diagnosis against controls. However, in practice, an individual is often affected by more than one condition/disorder. For example, patients with coronary artery disease(CAD) are often comorbid with diabetes mellitus(DM). Along a similar line, it is often clinically meaningful to study patients with one disease but without a comorbidity. For example, obese DM may have different pathophysiology from non-obese DM. Here we developed a statistical framework to uncover susceptibility variants for comorbid disorders (or a disorder without comorbidity), using GWAS summary statistics only. In essence, we mimicked a case-control GWAS in which the cases are affected with comorbidities or a disease without a relevant comorbid condition (in either case, we may consider the cases as those affected by a specific subtype of disease, as characterized by the presence or absence of comorbid conditions). We extended our methodology to deal with continuous traits with clinically meaningful categories (e.g. lipids). In

Author

Yin, Liangying; Chau, Carlos Kwan-long; Lin, Yu-Ping; Sham, Pak-Chung; So, Hon-Cheong

Published

2020

Language

EN