Importance of NPC1 Gene 644 A → G Mutation in Coronary Artery Disease

Öztürk S. D., Çelik A., Nursal A. F., Tekcan A., Rüstemoğlu A., Karakuş N., ...More

INTERNATIONAL JOURNAL OF HUMAN GENETICS, vol.17, no.2, pp.51-55, 2017 (SCI-Expanded)


CAD pathogenesis is the occlusion of coroner vessels progressively due to atherosclerotic plaques. NPC1 gene plays a critical role in the atherosclerosis progression. This study aimed to examine whether 644 AG polymorphism of NPC1 is associated with the risk of coronary artery disease in Turkish patients. In this case-control study, 200 persons were studied (100 patients and 100 controls). The 644 AG polymorphism of NPC1 gene is analyzed using polymerase chain reaction and restriction fragment length polymorphism methods. There was a significant relationship between the distribution of coronary artery disease and control group in terms of allele and genotype frequency (p= 0.0002) (p=0.003), respectively. According to the researchers’ results, 644 AG polymorphism in NPC1 gene can be one of the predisposition factor to coronary artery disease in Turkish population.