Research Highlight

Gene behind blood clot

doi:10.1038/nindia.2010.16 Published online 19 February 2010

Could there be a gene linked to blood clotting? Indian researchers have tracked some variations in a gene that codes for an enzyme linked to the process of clotting in deep vein thrombosis — a blood clot in a vein deep in the body. The results of the study open up the possibility of genetic screening to diagnose people running the risks of DVT.

This enzyme helps the formation of nitric oxide in cells lining the insides of blood vessels. Nitric oxide, in turn, plays an important role in controlling blood pressure.

The genetic variation observed by the researchers disrupts formation of nitric oxide resulting in high blood pressure and cardiovascular diseases such as deep vein thrombosis (DVT).

To pin down the role of the faulty gene, the researchers selected north Indian patients with unknown cause of DVT and compared them with normal patients treated as controls. They looked at five genetic variations in a gene called nitric oxide synthase 3 (NOS3) that codes for endothelial nitric oxide synthase, an enzyme that catalyses the synthesis of nitric oxide.

Of the five genetic variations, two have been linked to risk of DVT in patients. Susceptibility to DVT in north Indian Asian patients may be associated with some variants of NOS3 gene, the researchers say.

The authors of this work are from: All India Institute of Medical Sciences, New Delhi, India and Institute of Experimental Hematology and Transfusion Medicine, Bonn, Germany.


  1. Akhter, S. M. et al. The nitric oxide synthase 3 gene polymorphisms and their association with deep vein thrombosis in Asian Indian patients. Clin. Chim. Acta. doi: 10.1016/j.cca.2010.01.025 (2010)