The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome

Erkal B., Yıgın A. K., Palanduz S., Dasdemir S., Seven M.

AMERICAN JOURNAL OF MENS HEALTH, vol.12, no.6, pp.2152-2156, 2018 (SSCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 6
  • Publication Date: 2018
  • Doi Number: 10.1177/1557988318801158
  • Journal Indexes: Social Sciences Citation Index (SSCI), Scopus
  • Page Numbers: pp.2152-2156
  • Keywords: Klinefelter syndrome, physiological and endocrine disorders, PAI-1 polymorphism, thrombosis, varicose vein, LEG ULCERS, ASSOCIATION, INHIBITOR
  • Istanbul University Affiliated: Yes


Klinefelter syndrome (KS) is a common sex chromosome-related abnormality seen among men. KS negatively affects spermatogenesis and testosterone production. It increases the risk of thrombosis but its molecular mechanism has not been well described yet. Elevated PAI-1 is a risk factor for thrombosis. The rs1799889 polymorphism located in the promoter region of the PAI-1 gene was detected in patients with deep venous thrombosis. In this study, the PAI-1 gene variant and its plasma levels in KS patients were examined. Forty-one KS patients (47, XXY) and 50 age-matched healthy controls participated. DNA was isolated from peripheral blood and a real-time PCR method was used to detect known SNPs in the PAI-1 gene. In addition, PAI-1 plasma levels were measured by using ELISA method. There was no significant difference between PAI-1 gene polymorphisms of KS patients and controls (p > .05). The significant difference was observed in PAI-1 plasma levels between two groups (high PAI-1 plasma level in KS patients compared to controls). The patients' group mean was 55.13 and control group mean in PAI-1 level was 29.89 ng/ml (p = .020). Clinical features related to thromboembolism especially varicose veins were detected in KS patients frequently (p = .04). These results suggest that thromboembolism related to clinical features is seen more frequently in cases with KS, but it may not be dependent only on the PAI-1 gene polymorphism structure.