Limitation of Genetic variants in Asthma Genetics and Advance of Epigenetics. 

Choon – Sik, Park, M.D., Ph.D.

Genome Research Center for Allergy and Respiratory Diseases,

Division of Allergy and Respiratory Medicine, Soonchunhyang University, Bucheon Hospital.

For the past two decades, many studies have been performed to find out the genetic variants responsible for the risk of asthma and its sub-phenotypes. Several kinds of genetic approaches including genome wide association scan (GWAS) have been applied to the genetic studies so far, and the variants discovered even by GWAS have smaller genetic effects on the development of asthma than has ever been expected, and explain only a small proportion of heritability: the “missing’ heritability. However, the missing heritability can be overcome in part when the study subjects are stratified in consideration of the physiologic and environmental contributors. Recently, epigenesis has been applied to discover the other factors related with the genetic heritability of asthma. This lecture will introduce limitations of these genetic approaches’ results and improvement in the genetic impact of the variants upon the stratified subjects according to the age, exposure to smoking and to environmental or occupational agents. In addition, data of whole genome methylation pattern in the target organs will be presented regarding antigen specific asthma and aspirin - induced respiratory diseases. By this lecture, the audiences will gain the knowledge on the importance of well defined sub – phenotypes in asthma genetic study, and epigenetic influences on development of asthma sub-phenotypes.