MSGID: 1:317/3 627201b7   
   PID: hpt/lnx 1.9.0-cur 2019-01-08   
   TID: hpt/lnx 1.9.0-cur 2019-01-08   
    New tool better predicts COPD risk for people of non-European ancestry   
      
      
     Date:   
         May 3, 2022   
     Source:   
         University of Virginia Health System   
     Summary:   
         Initial tests of a new 'crystal ball' for COPD revealed that it   
         is better at predicting risk for both African-Americans and heavy   
         smokers than existing models.   
      
      
      
   FULL STORY   
   ==========================================================================   
   UVA Health researchers and their collaborators have developed a better   
   way to predict the risk of chronic obstructive pulmonary disease (COPD),   
   a progressive, potentially deadly form of lung inflammation, for people   
   of non- European ancestry.   
      
      
   ==========================================================================   
   Initial tests of the new, more inclusive tool revealed that it is better   
   at predicting COPD risk for both African-Americans and heavy smokers than   
   existing models that were based on genetic information largely collected   
   from people of European ancestry. The tool's developers say their approach   
   will allow doctors to better predict COPD risk for individuals of diverse   
   ancestry in the United States and around the world.   
      
   "Our study demonstrates the possibility of learning from large-scale   
   genetic studies performed primarily in European ancestry groups, and then   
   developing prediction models that can be used for prediction of genetic   
   risk in other ancestry groups," said researcher Ani W. Manichaikul, PhD,   
   of the University of Virginia School of Medicine. "While the current study   
   focus on risk prediction for COPD, we are already looking to apply similar   
   approaches to improve prediction of genetic risk for other diseases."   
   About COPD While treatable, COPD is a leading cause of death in the United   
   States and around the globe. Approximately 16 million Americans have COPD,   
   which is a group of lung conditions that includes emphysema and chronic   
   bronchitis. The lung damage caused by COPD is irreversible and accumulates   
   over time. That makes early detection and treatment especially important.   
      
   In recent years, doctors have been able to predict patients' genetic   
   risk of developing COPD and other common diseases using what are called   
   "polygenic risk scores," or PRS. These look at the total number of   
   naturally occurring gene variations a person has that predispose them to a   
   disease -- in this case, COPD. To date, most large-scale genetic studies   
   available for the study of disease risk have limited representation   
   of certain ancestry groups, including African-American and Hispanic,   
   yielding poorer prediction of disease risk for these groups.   
      
   Manichaikul and her collaborators sought to improve the ability to   
   predict COPD by better reflecting the world's genetic diversity. To   
   do so, they layered genetic measurements with other molecular measures   
   from a diverse ancestry group that included a combination of European   
   ancestry, African-American and Hispanic individuals from the United   
   States. Building on these resources, they developed what they call   
   "PrediXcan-derived polygenic transcriptome risk score," or PTRS. This   
   new approach incorporates much more information about the cumulative   
   effects of gene variations in different groups of people. The result   
   is a model that "bears a more direct connection to underlying disease   
   biology than standard PRS approaches," the researchers report in a new   
   scientific paper.   
      
   The scientists put their new tool to the test by analyzing its ability to   
   predict COPD in tens of thousands of participants in studies conducted by   
   the Trans-Omics for Precision Medicine (TOPMed) program sponsored by the   
   National Institutes of Health's National Heart, Lung and Blood Institute   
   (NHLBI).   
      
   PTRS, they found, was better at predicting COPD in African-Americans   
   and better at predicting moderate to severe COPD in heavy, longtime   
   smokers. Perhaps unsurprisingly (considering it was developed to better   
   reflect non-European populations), PTRS was less effective than PRS in   
   predicting COPD in people of European ancestry. But the availability   
   of multiple "crystal balls" to predict COPD in different populations   
   moves us an important step closer to true precision medicine -- medicine   
   tailored to each individual.   
      
   "So far, we have shown that by building on genomic data combined   
   with gene expression data from diverse ancestry individuals, we can   
   improve prediction of genetic risk for some people," said Manichaikul,   
   of UVA's Center for Public Health Genomics and Department of Public   
   Health Sciences. "Looking forward, we are excited to think about how we   
   can build on other collections of molecular data from diverse ancestry   
   individuals and keep working on improved approaches for prediction of   
   genetic risk for other diseases."  The work was funded by NHLBI grants   
   R01 HL131565, R01 HL153248, R01 HL135142, R01 HL137927, R01 HL089856,   
   R01 HL147148 and K01-HL129039.   
      
      
   ==========================================================================   
   Story Source: Materials provided by   
   University_of_Virginia_Health_System. Note: Content may be edited for   
   style and length.   
      
      
   ==========================================================================   
   Journal Reference:   
      1. Xiaowei Hu, Dandi Qiao, Wonji Kim, Matthew Moll, Pallavi P. Balte,   
      Leslie   
         A. Lange, Traci M. Bartz, Rajesh Kumar, Xingnan Li, Bing Yu,   
         Brian E.   
      
         Cade, Cecelia A. Laurie, Tamar Sofer, Ingo Ruczinski, Deborah A.   
      
         Nickerson, Donna M. Muzny, Ginger A. Metcalf, Harshavardhan   
         Doddapaneni, Stacy Gabriel, Namrata Gupta, Shannon Dugan-Perez,   
         L. Adrienne Cupples, Laura R. Loehr, Deepti Jain, Jerome I. Rotter,   
         James G. Wilson, Bruce M.   
      
         Psaty, Myriam Fornage, Alanna C. Morrison, Ramachandran S. Vasan,   
         George Washko, Stephen S. Rich, George T. O'Connor, Eugene Bleecker,   
         Robert C.   
      
         Kaplan, Ravi Kalhan, Susan Redline, Sina A. Gharib, Deborah   
         Meyers, Victor Ortega, Jose'e Dupuis, Stephanie J. London, Tuuli   
         Lappalainen, Elizabeth C. Oelsner, Edwin K. Silverman, R. Graham   
         Barr, Timothy A.   
      
         Thornton, Heather E. Wheeler, Michael H. Cho, Hae Kyung Im, Ani   
         Manichaikul. Polygenic transcriptome risk scores for COPD and   
         lung function improve cross-ethnic portability of prediction in   
         the NHLBI TOPMed program. The American Journal of Human Genetics,   
         2022; DOI: 10.1016/j.ajhg.2022.03.007   
   ==========================================================================   
      
   Link to news story:   
   https://www.sciencedaily.com/releases/2022/05/220503091511.htm   
      
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