Family-Specific Genetic Variants Contributing to Asthma Susceptibility (FAstGen): Asthma is the most common chronic illness in childhood and it is widely recognized that there is a major genetic component to asthma susceptibility. Previous studies of the entire genome have identified common variants in more than 15 genes significantly associated with asthma or related phenotypes. While the majority of these findings have been replicated they account for only a small portion of the genetic contribution to asthma. Our goal is to now find genetic variants which are rare in the population, but may substantially contribute to the genetics of asthma. Here, we hypothesize a model whereby individual families are segregating “family-specific” mutations contributing to asthma susceptibility. We hypothesize that at least one family-specific mutation is necessary, but not sufficient for disease development within individuals in the family.
This project utilizes a family-based whole-exome sequencing strategy (sequencing only the protein coding regions of the genome) to identify family-specific variants segregating with asthma. We are taking advantage of the family-based nature of several studies conducted at the Center for Perinatal, Pediatric and Environmental Epidemiology by selecting families based on information collected in these previous studies. We are re-contacting asthma families with three or more children, at least two of whom were reported to be asthmatic, to collect blood to isolate DNA, assess asthma and asthma symptoms in the parents and children, and conduct family-based sequencing analyses. Our goal is to identify rare genetic mutations segregating with asthma and look for clusters of mutations in the same genes across the families in the study.
Our goal is to recruit approximately 300 families through the end of 2014. DNA sequencing is expected to begin in 2015.
We thank you for your interest in this project and please do not hesitate to contact us at email@example.com or 203-737-6229.
Principal Investigator: Andrew DeWan, PhD
Co-Investigators: Michael B. Bracken, PhD, Josephine Hoh, PhD
Program Manager: Jo Cecille Demarest, MS