Indian Journal of Clinical Biochemistry

, Volume 33, Issue 2, pp 202–207 | Cite as

Correlation Between Intron 4 Polymorphism of the Endothelial Nitric Oxide Synthase Gene and Cardiovascular Risk with the Numbers of Circulating Endothelial Progenitor Cells in Healthy Subjects

  • Upasana Rishiraj
  • Sumati Rohilla
  • Savneet Kaur
Original Article


In the present study, we investigated the relationship between an important 27 bp repeat polymorphism in intron 4 of eNOS and numbers of circulating EPCs in presence of cardiovascular disease (CVD) risk factors in a group of healthy human volunteers. The study comprised of 45 healthy subjects (30–50 years). These subjects had various degrees of CVD risk but no history of CVD. The repeat polymorphism of eNOS was detected by polymerase chain reaction and EPC levels were analyzed by flow cytometry. We observed a good association between the intronic 4 mutant a/b genotype and the combined Framingham risk factor score in our subjects (χ2 = 3.2, P = 0.07). EPC numbers in subjects with mutant eNOS a/b genotype were also less than those observed in subjects with normal eNOS b/b genotype (P = 0.06). Interestingly, subjects with eNOS a/b genotype showed a significant inverse correlation between framingham risk score and EPC numbers (R = −0.57, P < 0.05). The study suggests that the presence of CVD risk factors in subjects with eNOS intron 4 polymorphism results in reduced number of circulating EPCs, which may significantly predispose them to CVD and aberrant endothelial repair.


Cardiovascular disease Endothelial nitric oxide synthase Endothelial progenitor cells Polymorphism 



We are grateful to the Vice Chancellor, Gautam Buddha University for providing us the necessary facilities to perform the study. We are thankful to Dr. Nirupma Trehanpati, Institute of Liver and Biliary Sciences, New Delhi for her support in the flow cytometry experiments.

Compliance with Ethical Standards

Conflict of interest

All authors declare no conflict of interests.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.


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Copyright information

© Association of Clinical Biochemists of India 2017

Authors and Affiliations

  1. 1.School of BiotechnologyGautam Buddha UniversityGreater NoidaIndia
  2. 2.School of BiotechnologyGautam Buddha UniversityGreater NoidaIndia

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