Genetic Polymorphisms Associated with Thrombotic Disease Comparison of Two Territories: Myocardial Infarction and Ischemic Stroke

Abstract

Background and Purpose The thrombin-activatable fibrinolysis inhibitor (TAFI) is an important inhibitor of fibrinolysis and plays a critical role in the pathogenesis of arterial thrombosis; genetic polymorphisms of the TAFI gene affect its activity and increase the risk of thrombosis. Moreover, studies in young patients are still scarce. The aim was to examine the contribution of the Thr325Ile and Ala147Thr polymorphisms with ST acute myocardial infarction (STEMI) or idiopathic ischemic stroke (IIS) in the young Mexican population. Methods A total of 244 patients with STEMI ≤45 years of age and 244 controls. In a second study, 250 patients with IIS ≤45 years of age were recruited, including 250 controls. In both studies, cases and controls were matched by age and sex. The polymorphisms were determined in all participants by PCR-RFLP. Results There was significant difference in the Thr325Ile genotype distribution (P = 0.001) and allele frequency (P = 0.001) between STEMI and control groups, but no difference in the Ala147Thr genotype distribution (P = 0.24) and allele frequency (P = 0.46), neither in the Thr325Ile genotype distribution (P = 0.25) nor in the Ala147Thr genotype distribution (P = 0.46) or their allele frequencies; there was significant difference between IIS and the control group. There were independent factors for STEMI: the Ile allele (P = 0.01), type 2 diabetes mellitus (P = 0.001), hypertension (P = 0.001), smoking (P = 0.001), dyslipidemia (P = 0.001), and family history of atherothrombotic disease (P = 0.001). The independent factors for IIS were hypertension (P = 0.001), smoking (P < 0.01), and family history of atherothrombotic disease (P < 0.01). Conclusions The Thr325Ile polymorphism, but no Ala147Thr polymorphism, represents an independent risk factor for STEMI in the young Mexican population.

Carboxypeptidase U (CPU, TAFIa, CPB2) in Thromboembolic Disease: What Do We Know Three Decades after Its Discovery?

“…2019 [124] Thr/Ile325 polymorphism in the CPB2 gene was associated with an increased risk for STEMI (N = 244), but not for IIS (N = 250). Genotype and allele distribution were similar in IIS patients and controls (N = 244).…”

“…Rattanawan and co-workers selected a total of 327 patients that were scheduled for an elective coronary angiography and found that the +1040C/T polymorphism was not associated with more severe coronary stenosis [ 125 ]. Another study reported that the Thr/Ile325 polymorphism was associated with an increased risk for STEMI but not for idiopathic ischemic stroke in young individuals [ 124 ]. A meta-analysis conducted by Shi and colleagues showed that the Thr/Ile325 variant had no significant influence on the susceptibility for cardiovascular diseases (CVD).…”

Thrombin Activatable Fibrinolysis Inhibitor (TAFI): An Updated Narrative Review

“…Even though several studies could provide a link between TAFI gene SNPs and cerebral venous thrombosis [ 69 ], venous thromboembolic disease [ 70 , 71 ], myocardial infarction [ 72 , 73 ], stroke [ 74 ], and coronary heart disease [ 75 , 76 ], a clear link remains controversial as it could not be established by many other studies [ 77 , 78 , 79 , 80 , 81 , 82 ]. Similarly, independent of the contribution from TAFI gene SNPs, ample evidence has been provided of a link between elevated TAFI levels and venous thromboembolic disease [ 83 , 84 ], deep vein thrombosis [ 85 ], stroke [ 82 , 86 , 87 ], and coronary heart disease [ 88 ].…”

JAUNO (< 55 METŲ) AMŽIAUS ASMENŲ MIOKARDO INFARKTO RIZIKOS VEIKSNIAI

“…Apžvelgus į literatūros analizę įtrauktus tyrimus, išskirtos kelios tokių rizikos veiksnių grupės -tam tikrų genų (ADPIOQ, ESR2, TAFI, ACE, FII ir kt.) polimorfizmas [21,22,[24][25][26], krešėjimo faktorių kiekio ar aktyvumo pokyčiai [27,28], šeiminė hipercholesterolemija [29][30][31], telomerų ilgio pokyčiai [23].…”

“…Literatūros apžvalgai iš viso atrinktos 25 publikacijos, kurios buvo suskirstytos į 3 grupes -4 tyrimai nustatantys bendrą rizikos veiksnių paplitimą tarp pacientų, MI patyrusių jauname amžiuje [9][10][11][12], 10 tyrimų, lyginančių rizikos veiksnių paplitimą tarp jaunų bei vyresnio amžiaus pacientų [6,7,[14][15][16][17][18][19][20][21] ir 11 tyrimų, tiriančių netradicinius jauname amžiuje persirgto MI rizikos veiksnius [23][24][25][26][27][28][29][30][31][32][33]. Mokslinių tyrimų atrankos procesas pateiktas schemoje (1 pav.…”