abdominal aortic aneurysm

Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability.

Pathology

 Variant rs1466535, located within intron 1 of low-density-lipoprotein receptor-related protein 1 (LRP1), might alter a SREBP-1 binding site and influence enhancer activity at the locus. This variant has a possible functional role in LRP1 expression. (22055160)

References

 Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1. Bown MJ, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF, Gretarsdottir S, Badger SA, Bradley DT, Burnand K, Child AH, Clough RE, Cockerill G, Hafez H, Julian A Scott D, Futers S, Johnson A, Sohrabi S, Smith A, Thompson MM, van Bockxmeer FM, Waltham M, Matthiasson SE, Thorleifsson G, Thorsteinsdottir U, Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Assimes TL, McPherson R; CARDIoGRAM Consortium; Global BPgen Consortium; DIAGRAM Consortium; VRCNZ Consortium, Folkersen L, Franco-Cereceda A, Palmen J, Smith AJ, Sylvius N, Wild JB, Refstrup M, Edkins S, Gwilliam R, Hunt SE, Potter S, Lindholt JS, Frikke-Schmidt R, Tybjærg-Hansen A, Hughes AE, Golledge J, Norman PE, van Rij A, Powell JT, Eriksson P, Stefansson K, Thompson JR, Humphries SE, Sayers RD, Deloukas P, Samani NJ. Am J Hum Genet. 2011 Nov 3. PMID: 22055160