FRI-746 Evidence Of Common Ancestry In Patients With Interstitial Lung Disease And Scleroderma

Friday, October 12, 2012: 7:40 PM
Hall 4E/F (WSCC)
Nicholas Sun Child , University of Utah, Salt Lake City, UT
Mary Scholand, MD , University of Utah, Salt Lake City
Interstitial Lung Diseases (ILDs) are frequently associated with autoimmune diseases with significant overlap in clinical presentation and histopathology. Many patients with ILDs have positive serologies for autoimmune disease, some without overt systemic autoimmune disease. We hypothesize that there may be a distinct genetic predisposition for autoimmune related ILDs and that patients with ILD and scleroderma will share common ancestry highlighting these common genetic backgrounds. An extensive genealogy database (Utah Population Database - UPDB), constructed using family history records and state-wide births and deaths, was utilized to search the names of subjects with ILD, scleroderma or both. The degree of relatedness was then assembled between patients with ILD and scleroderma.  Pedigrees were developed to illustrate the family structure. Of the 229 ILD patients and the 200 scleroderma patients found in the UPDB, there were a total of 94 relationships between the ILD cohort and the Scleroderma cohort.Some patients with ILD share common ancestry with patients with scleroderma.  This shared ancestry is statistically significant.  The pattern of the relationships are distant supporting common heritability rather than shared environmental factors.  While both of these diseases are heterogeneous, our findings suggest that a subset of patients with ILD and scleroderma share common genetic factors.  The extended pedigrees identified will be used to search genetic loci contributing to these diseases.