表 1. Pathogenic genes associated with TAD.

与TAD相关的致病基因^[6-8]

Category	Gene	Key functions	Consequences of mutations
MYH11: myosin heavy chain 11; MYLK: myosin light chain kinase; PRKG1: protein kinase c GMP-dependent 1; FLNA: filamin A; MAT2A: methionine adenosyltransferase 2A; FOXE3: forkhead box protein E3; LOX: lysyl oxidase; FBN: fibrillin; COL3A1: collagen type Ⅲ, alpha-1 chain; COL5A1: collagen type Ⅴ, alpha-1 chain; COL1A2: collagen type Ⅰ, alpha-2 chain; MFAP5: microfibrillar-associated protein 5; TGF-βR: transforming growth factor-beta receptor; SMAD: mothers against decapentaplegic homolog.
Genes associated with contraction, differentiation, and proliferation of VSMCs	MYH11	Encoding smooth muscle myosin heavy chain and involvement in smooth muscle cell contraction	Familial thoracic aortic aneurysm and increased risk of dissection in the thoracic aorta
	MYLK	Encoding myosin light chain kinase and involvement in smooth muscle cell contraction	Familial thoracic aortic aneurysm and dissection
	PRKG1	Encoding type Ⅰ cyclic GMP-dependent protein kinase, which controls smooth muscle cell relaxation	Association with thoracic aortic aneurysm and acute aortic dissection
	FLNA	Encoding filamin-A and involvement in smooth muscle cell contraction	Cardiac valvular dysplasia
	MAT2A	Encodeing the enzyme MAT Ⅱa	Association with thoracic aortic aneurysm
	FOXE3	Encoding a transcription factor involved in cellular differentiation	Increased risk of aortic dissection
Extracellular matrix-associated genes	LOX	Encoding the majority of lysyl oxidase in the aorta	Marfan syndrome and increases in aortic aneurysm and dissections
	FBN1	Encoding fibrillin 1 and formation of microfibrils	Marfan syndrome
	FBN2	Encoding fibrillin 2 and formation of microfibrils	Marfan syndrome and aortic root dilatation
	COL3A1	Encoding type Ⅲ collagen and synthesis of extracellular matrix collagen	Vascular Ehlers-Danlos syndrome and increased risk of dissection in the thoracic aorta
	COL5A1	Encoding type Ⅴ collagen and synthesis of extracellular matrix collagen	Vascular Ehlers-Danlos syndrome
	COL1A2	Encoding type Ⅰ collagen and synthesis of extracellular matrix collagen	Vascular Ehlers-Danlos syndrome and aortic regurgitation
	MFAP5	Encoding structural proteins of elastin fibres and microfibrils	Increased risk of aortic dissection
TGF-β signalling pathway and its associated receptor protein genes	TGF-βR1&TGF-βR2	Encoding receptors involved in TGFβ signalling	Loeys-Dietz syndrome and increased risk of dissection in the thoracic aorta
	SMAD2&SMAD3&SMAD4	Modulating transcription factors involved with the extracellular matrix	Increased risk of dissection