Dong-chuan Guo, Megan L. Grove, Siddharth K

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Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections Dong-chuan Guo, Megan L. Grove, Siddharth K. Prakash, Per Eriksson, Ellen M. Hostetler, Scott A. LeMaire, Simon C. Body, Sherene Shalhub, Anthony L. Estrera, Hazim J. Safi, Ellen S. Regalado, Wei Zhou, Michael R. Mathis, Kim A. Eagle, Bo Yang, Cristen J. Willer, Eric Boerwinkle, Dianna M. Milewicz The American Journal of Human Genetics Volume 99, Issue 3, Pages 762-769 (September 2016) DOI: 10.1016/j.ajhg.2016.06.034 Copyright © 2016 American Society of Human Genetics Terms and Conditions

Figure 1 Linkage Disequilibrium Structure of the Regions Flanking LRP1 rs11172113 and ULK4 rs2272007 Based on the HapMap CEU Data (A) Linkage disequilibrium (LD) structure (D′) of chromosome 12 region flanking LRP1 rs11172113. Red arrow indicates LRP1 rs11172113, identified to be associated with thoracic aortic dissections in this study, and green arrow indicates LRP1 rs1466535 SNP, previously reported to be associated with abdominal aortic aneurysms. (B) LD structure of chromosome 3 region flanking ULK4 rs2272007. Red arrow indicates ULK4 SNPs that were significantly or marginally significantly associated with STAD in discovery study and blue arrow indicates ULK4 SNPs previously reported to be associated with hypertension. The American Journal of Human Genetics 2016 99, 762-769DOI: (10.1016/j.ajhg.2016.06.034) Copyright © 2016 American Society of Human Genetics Terms and Conditions

Figure 2 Characterization of ULK4 Deletions in Individuals with Thoracic Aortic Disease and a Control Subject The black bars indicate the extent of genomic deletion in individuals with TAAD and the gray bar indicates the extent of genomic deletion identified in a control subject. The bar below the schematic of the ULK4 gene structure indicate the extent of the typical ULK4 deletion identified in individuals with schizophrenia. The scale is in kilobases. The American Journal of Human Genetics 2016 99, 762-769DOI: (10.1016/j.ajhg.2016.06.034) Copyright © 2016 American Society of Human Genetics Terms and Conditions