When FMD hits a family, abdominal aortic aneurysms may too
Study finds shared genetics between two inherited diseases of the arteries.
- Date:
- December 1, 2022
- Source:
- Michigan Medicine - University of Michigan
- Summary:
- A new study finds a shared complex genetic architecture that explains why when one family member develops fibromuscular dysplasia, the risk of a male member of that family developing an abdominal aortic aneurysm is significantly higher. Researchers say the findings also support that screening for abdominal aortic aneurysm in male relatives of patients with FMD may be useful, along with currently established AAA screening guidelines.
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One disease is more common in people assigned female at birth, while the other is more common in people assigned male at birth. But a new publication details a "shared complex genetic architecture" between the cardiovascular conditions that could explain why, when one member of a family develops fibromuscular dysplasia, another may develop an abdominal aortic aneurysm.
"We used complementary genetic approaches to validate the relationship between these two highly sex-biased conditions, raising some interesting questions regarding sex differences relating to a common, shared genetic risk profile," said senior author Santhi K. Ganesh, M.D., an associate professor of internal medicine and human genetics, and a cardiologist at the University of Michigan Health Frankel Cardiovascular Center.
Ganesh and colleagues analyzed family histories from 73 people with FMD and 463 of their first-degree relatives who volunteered to participate in clinical research. They discovered that, in a family where one person had FMD, the risk of a male member of that family developing an abdominal aortic aneurysm was significantly higher. For example, the father of a person with FMD was twice as likely to experience AAA, according to results published in Circulation: Genomic and Precision Medicine.
The research team then compared a new polygenic risk score for FMD and established polygenic risk scores for AAA to verify a shared genetic basis for both diseases, Ganesh says. The results point to specific genes that may underlie both diseases, providing new biological understanding of vascular diseases. The findings also support that screening for abdominal aortic aneurysm in male relatives of patients with FMD may be useful, along with currently established AAA screening guidelines.
Story Source:
Materials provided by Michigan Medicine - University of Michigan. Original written by Haley Otman. Note: Content may be edited for style and length.
Journal Reference:
- Alexander E. Katz, Min-Lee Yang, Michael G. Levin, Catherine Tcheandjieu, Michael Mathis, Kristina Hunker, Susan Blackburn, Jonathan L. Eliason, Dawn M. Coleman, Natalia Fendrikova-Mahlay, Heather L. Gornik, Monita Karmakar, Hannah Hill, Chang Xu, Matthew Zawistowski, Chad M. Brummett, Sebastian Zoellner, Xiang Zhou, Christopher O’Donnell, Julie A. Douglas, Themistocles L. Assimes, Phillip S. Tsao, Jun Z. Li, Scott M. Damrauer, James C. Stanley, Santhi K. Ganesh, J. Michael Gaziano, Sumitra Muralidhar, Rachel Ramoni, Jean Beckham, Kyong-Mi Chang, James Breeling, Grant Huang, Juan P. Casas, Sumitra Muralidhar, Jennifer Moser, Stacey B. Whitbourne, Jessica V. Brewer, Mihaela Aslan, Todd Connor, Dean P. Argyres, J. Michael Gaziano, Brady Stephens, Mary T. Brophy,, Donald E. Humphries, Luis E. Selva, Nhan Do, Shahpoor (Alex) Shayan, Kelly Cho, Lori Churby, Saiju Pyarajan,, Kelly Cho, Scott L. DuVall, Saiju Pyarajan, Elizabeth Hauser, Yan Sun, Hongyu Zhao, Peter Wilson, Rachel McArdle, Louis Dellitalia, Kristin Mattocks, John Harley, Jeffrey Whittle, Frank Jacono, Jean Beckham, John Wells, Salvador Gutierrez, Gretchen Gibson, Kimberly Hammer, Laurence Kaminsky, Gerardo Villareal, Scott Kinlay, Junzhe Xu, Mark Hamner, Roy Mathew, Sujata Bhushan, Pran Iruvanti, Michael Godschalk, Zuhair Ballas, Douglas Ivins, Stephen Mastorides, Jonathan Moorman, Saib Gappy, Jon Klein, Nora Ratcliffe, Hermes Florez, Olaoluwa Okusaga, Maureen Murdoch, Peruvemba Sriram, Shing Shing Yeh, Neeraj Tandon, Darshana Jhala, Samuel Aguayo, David Cohen, Satish Sharma, Suthat Liangpunsakul, Kris Ann Oursler, Mary Whooley, Sunil Ahuja, Joseph Constans, Paul Meyer, Jennifer Greco, Michael Rauchman, Richard Servatius, Melinda Gaddy, Agnes Wallbom, Timothy Morgan, Todd Stapley, Scott Sherman, George Ross, Patrick Strollo, Edward Boyko, Laurence Meyer, Samir Gupta, Mostaqul Huq, Joseph Fayad, Adriana Hung, Jack Lichy, Robin Hurley, Brooks Robey, Robert Striker. Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture. Circulation: Genomic and Precision Medicine, 2022; DOI: 10.1161/CIRCGEN.121.003496
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