Polymorphisms of genes involved in extracellular matrix remodeling and abdominal aortic aneurysm

Claudia Saracini, Paola Bolli, Elena Sticchi, Giovanni Pratesi, Raffaele Pulli, Francesco Sofi, Carlo Pratesi, Gian Franco Gensini, Rosanna Abbate, Betti Giusti

Research output: Contribution to journalArticlepeer-review


Abdominal aortic aneurysm (AAA) has a multifactorial etiology and the relevance of genetic factors is getting increasing interest, in particular those related to the destructive remodeling of extracellular matrix. We performed a candidate gene association study of polymorphisms in genes coding matrix metalloproteinases (MMPs), tissue inhibitors of MMPs (TIMPs), and elastin (ELN) in AAA. DNA samples from 423 AAA patients and 423 controls were genotyped for 12 polymorphisms in 10 genes: MMP1 (-1607G/GG), MMP2 (-735C/T; -1306C/T; -1575 G/A), MMP3 (5A/6A), MMP9 (-1562C/T), MMP10 (A180G), MMP-12 (-82A/G), MMP-13 (-77A/G), TIMP1 (C434T), TIMP3 (-1296T/C), and ELN (G1355A). Genotype distribution was significantly different between patients and controls for the following polymorphisms: -1306C/T MMP2; 5A/6A MMP3; -77A/G MMP-13; G1355A ELN; and C434T TIMP1. In a multivariable logistic regression analysis adjusted for traditional cardiovascular risk factors and chronic obstructive pulmonary disease, -1306C/T MMP2 (odds ratios [OR] = 0.55 [95% confidence interval, CI.34-.85], P 2 = 0%) and MMP-13 (AAA patients n = 800, controls n = 843: OR = 1.37 [95% CI = 1.04-1.82], I 2 = 25%) polymorphisms and a trend that did not reach the statistical significance, toward a decreased risk of AAA for MMP2 (AAA patients n = 1090, controls n = 1077: OR = 0.83 [95% CI =.60-1.15], I 2 =7 1%) and ELN (AAA patients n = 904, controls n = 1069: OR = 0.79 [95% CI =.53-1.18], I 2 = 72%) polymorphisms. These findings suggest that polymorphisms in MMP2, MMP3, MMP-13, and ELN genes may independently contribute to the pathogenesis of AAA.

Original languageEnglish
JournalJournal of Vascular Surgery
Issue number1
Publication statusPublished - Jan 2012

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Surgery


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