Genetic and Epigenetic Regulation of Aortic Aneurysms

Table 1

Summary of genetic and epigenetic relationships with TAAD and AAA.

Mutation	Syndrome	TAAD	AAA
FBN1 [5–8]	Marfan	+
TGFBR1 [9], TGFBR2 [9, 10]	Loeys-Dietz	+
COL3A1 [11–14]	Ehlers-Danlos	+	+/−
TGFBR2, MYH11 [15, 16], ACTA2 [17, 18] LOX [19], MAT2A [20], SMAD3 [21, 22]	Familial TAAD	+
PKD1 [23, 24], PKD2 [24]	ADPKD	+	+/−
NF1 [25–27]	NF1	+	+/−
FBLN5 [28–30]		+
ELN [14]	Williams		+
MMP2 [31], MMP9 [32], MMP12 [33]			+/−
MMP3 [34, 35]			+
TIMP1 [14]			+
LDLR1 [36, 37]			+
APOE E3/E3 [38]			+
PTPN11 [39–41]	Noonan	+
MTHFR C677T [42–44]			+
ALOX15 [45, 46]			+
CNN2 [47]			+
SERPINB9 [47]			+
ADCY10P1 [47]			+
miR-21 [48], miR-146a [48]			+
miR-29b [49, 50]		+	+