<i>Objective:</i> To investigate the possible association between the codon 72 polymorphism (Pro72Arg, rs1042522) of the tumor suppressor gene <i>(TP53)</i> and the presence of coronary artery disease (CAD) in Chilean subjects. <i>Subjects and</i><i>Methods:</i> A total of 209 unrelated patients with a diagnosis of CAD confirmed by angiography (33–74 years old) and 216 healthy controls (30–68 years old) were included in this study. The Pro72Arg polymorphism of the <i>TP53</i> gene was evaluated by PCR-RFLP. <i>Results:</i> The genotype distribution for the Pro72Arg variant of the <i>TP53</i> gene in CAD patients (PP: n = 13, 6.2%; PR: n = 61, 29.4%; RR: n = 135, 64.6%) and controls (PP: n = 18, 8.3%; PR: n = 94, 43.5%; RR: n = 104, 48.1%) was significantly different (p = 0.003). Similarly, the allelic frequency was also different (p = 0.003). The odds ratio for CAD related to the 72Arg allele was 2.0 (95% CI = 1.33–2.90), confirming the presence of an association. <i>Conclusion:</i> These findings suggest that the Pro72Arg polymorphism of the <i>TP53</i> gene is associated with CAD in Chilean individuals.
ResumenIntroducción: Diferentes genes han sido implicados en la etiología de la enfermedad arterial coronaria, entre ellos, el gen TP53. Recientemente, el polimorfismo en el codon 72 (Pro72Arg, rs1042522)
Objective: To investigate the possible association between factor XII (F12) gene variant and the presence of coronary artery disease (CAD) in Chilean subjects. Methods: A total of 112 unrelated patients with a diagnosis of CAD confirmed by angiography (33–74 years old) and 107 healthy controls (30–68 years old) were included in this study. PCR-RFLP was used to evaluate the 46C → T polymorphism of the F12 gene. Results: The genotype distribution for the 46C → T variant of the F12 gene in CAD patients (CC: 41%, CT: 39%, TT: 20%) and controls (CC: 38%, CT: 48%, TT: 14%) was comparable (p = 0.365). Similarly, the allelic frequency was equivalent (p = 0.833). The odds ratio for CAD associated with the mutated 46T allele was 1.06 (95% CI = 0.72–1.56) confirming the absence of an association. Conclusion: This study showed that the F12 46C → T gene polymorphism is not related to CAD in the studied population. However, this study is limited by its sample size and the use of controls not matched by age and sex.
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