Relationship of Plasminogen Activator Inhibitor 1 4G/5G Gene Polymorphism and Nontraumatic Lunatum Avascular Necrosis.

Gönen, Metin; Yörükoğlu, Ali Çağdaş; Aydemir, A Nadir; Gönen, Gizem Akıncı; Tepeli, Emre; Demirkan, A Fahir · J Hand Surg Am · 2020

case_control · Level III

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Abstract

Plasminogen activator inhibitor 1 (PAI-1) is a critical enzyme that regulates coagulation and fibrinolytic systems. The aim of this study was to determine the role of PAI-1 4G/5G polymorphism in nontraumatic avascular necrosis of the lunate. The study included 45 patients with Kienböck disease and 45 healthy individuals as a control group. In both groups, genomic DNA was extracted from peripheral blood samples to determine the distributions of PAI-1 4G/5G polymorphism using allele-specific polymerase chain reaction and sequencing. No statistically significant difference was determined in the distribution of the gene polymorphism between the patient and control groups. We found the 5G/5G genotype to be 1.7 times higher in the control group compared with the patient group. A 1.6-fold increase in the 4G homozygote genotype was identified in the patient group. The patient and control groups were also evaluated for 4G/4G plus 4G/5G and 5G/5G in terms of genotype distribution. No statistically significant difference was found. The findings suggest that the PAI-1 4G/4G polymorphism is not a genetic risk for Kienböck disease. This study aimed to reveal the genetic etiology of Kienböck disease.

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