Skip to main content

Table 1 Genotypes of the studied candidate genes

From: Ascending aortic aneurysm in a patient with bicuspid aortic valve, positive history of systemic autoimmune diseases and common genetic factors: a case report

Gene

Polymorphism

Biological function

Genotypes

MTHFR

C677T

Reduction in enzyme activity and moderate increase in plasma homocysteine levels

TT

MMP9

C1562T

~2-fold higher promoter activity

TT

MMP12

A82G

Different transcriptional activity (upregulation)

AA

ACE

I/D

I allele is associated with 50% decrease in ACE levels

DD

PAI-1

4G/5G

The 5G variant is associated with less inhibition of the plasminogen activators and, consequently, increased conversion of plasminogen to plasmin and increased activation of MMPs.

5G/5G