Genetic Variants Associated with High Susceptibility of Premature Ischemic Stroke

Table 4

Candidate genes associated to the development of premature IS.

Protein	Function	Gene	Variation type	Transcript change	Other names	Consequence
AGT	Interacts with renin to form angiotensin I	AGT	SNV	T803C	M235T	Higher plasma AGT levels, which result in higher blood pressure
			SNV	C620T	T174M
ACE	Conversion of inactive angiotensin I to active angiotensin II	ACE	I/D of an Alu repeated sequence in an intron	N/A		Increase the serum concentration of ACE
FII	An inactive zymogen vitamin K-dependent glycoprotein, activated by FXa in the presence of phospholipids, calcium, and FVa, to form thrombin	F2	SNV in 3 prime UTR variant	NA	G20210A	Increase the concentration of thrombin. Thrombin converts fibrinogen to fibrin
FV	Plasma glycoprotein, when activated, acts as a cofactor for the conversion of prothrombin to thrombin by FXa	F5	SNV	G1601A	Leiden mutation; R506G; G1691A	Affects the APC cleavage site of FV, and in consequence, FVa is not properly inactivated by APC
FVII	An inactive zymogen, vitamin K-dependent glycoprotein, activated by tissue factor upon vascular injury. This complex turns on factors IX and X	F7	SNV	G1238A	R353Q
AGTR1	It has vasopressor effects and regulates aldosterone secretion and controls blood pressure and volume in the cardiovascular system	AGTR1	SNV	A1166C	High blood pressure
TSP-1	TSP-1 promote smooth muscle cell proliferation and migration to promote platelet activation and aggregation	TSP-1	SNV	N700S		Increasing smooth muscle cell proliferation and migration and platelet activation and aggregation and atherosclerosis

AGT: angiotensinogen; ACE: angiotensin-converting enzyme; FII: coagulation factor II; FV: coagulation factor V or Leiden; FVII: coagulation factor VII; FXa: activated coagulation factor X; FvW: von Willebrand factor; SNV: single nucleotide variant; I/D: insertion/deletion; APC: activated protein C; TSP: thrombospondin; AGTR1: angiotensin II type 1 receptor.