Genetic variants in FBN-1 and risk for thoracic aortic aneurysm and dissection

PloS One
Olga A IakoubovaJohn Alex Elefteriades

Abstract

A recent genome wide association study (GWAS) by LeMaire et al. found that two single nucleotide polymorphisms (SNPs), rs2118181 and rs10519177 in the FBN-1 gene (encoding Fibrillin-1), were associated with thoracic aortic dissection (TAD), non-dissecting thoracic aortic aneurysm (TAA), and thoracic aortic aneurysm or dissection (TAAD); the largest effect was observed for the association of rs2118181 with TAD. We investigated whether rs2118181 and rs10519177 were associated with TAD, TAA, and TAAD in the Yale study. The genotypes of rs2118181 and rs10519177 were determined for participants in the Yale study: 637 TAAD cases (140 TAD, 497 TAA) and 275 controls from the United States, Hungary, and Greece. The association of the genotypes with TAD, TAA and TAAD were assessed using logistic regression models adjusted for sex, age, study center and hypertension. In the Yale study, rs2118181 was associated with TAD: compared with non-carriers, carriers of the risk allele had an unadjusted odds ratio for TAD of 1.80 (95% CI 1.15-2.80) and they had odds ratio for TAD of 1.87 (95% CI 1.09-3.20) after adjusting for sex, age, study center and hypertension. We did not find significant differences in aortic size, a potential confounder for T...Continue Reading

References

Oct 8, 2014·Current Opinion in Cardiology·Guillaume Jondeau, Catherine Boileau
Feb 16, 2016·BMC Musculoskeletal Disorders·Octavio D Reyes-HernándezMónica Sierra-Martínez
Nov 30, 2016·Journal of Molecular and Cellular Cardiology·Marina Gago-DíazArtur Evangelista
Jan 15, 2015·European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery·Vaiva LesauskaiteRimantas Benetis
Jan 20, 2019·Journal of Human Hypertension·A TagettiC Fava
Jun 1, 2019·Indian Journal of Thoracic and Cardiovascular Surgery : Official Organ, Association of Thoracic and Cardiovascular Surgeons of India·Adam Joseph BrownsteinJohn Alex Elefteriades

Citations

Mar 1, 1997·The Journal of Thoracic and Cardiovascular Surgery·M A CoadyJohn Alex Elefteriades
Nov 2, 2001·The Journal of Thoracic and Cardiovascular Surgery·L J GoldsteinJohn Alex Elefteriades
Oct 14, 2003·Arteriosclerosis, Thrombosis, and Vascular Biology·Jeffrey W Olin, Valentin Fuster
Apr 20, 2007·American Journal of Epidemiology·Alanna C MorrisonEric Boerwinkle
Aug 22, 2007·Circulation·Linda A PapeInternational Registry of Acute Aortic Dissection (IRAD) Investigators
Jun 12, 2008·Annual Review of Genomics and Human Genetics·Dianna M MilewiczHariyadarshi Pannu
Jul 23, 2008·Perspectives in Vascular Surgery and Endovascular Therapy·Kimon Bekelis, Nicos Labropoulos
Feb 27, 2010·Journal of the American College of Cardiology·John Alex Elefteriades, Emily A Farkas
Aug 17, 2010·European Heart Journal·Delphine DétaintGuillaume Jondeau
Oct 26, 2010·The Annals of Thoracic Surgery·Santi TrimarchiJohn Alex Elefteriades
Dec 1, 2010·The Journal of Thoracic and Cardiovascular Surgery·John Alex Elefteriades
Dec 22, 2010·Nature Reviews. Cardiology·Scott A Lemaire, Ludivine Russell
Nov 23, 2011·The Journal of Thoracic and Cardiovascular Surgery·Howard K SongGenetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium

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