Importance of NPC1 Gene 644 A → G Mutation in Coronary Artery Disease. (3rd April 2017)

• Record Type: Journal Article
• Authors: Ozturk, Sibel Demir; Celik, Atac; Nursal, Ayse Feyda; Tekcan, Akin; Rustemoglu, Aydin; Karakus, Nevin; Yigit, Serbulent
• Is Part Of: International journal of human genetics. Volume 17:Number 2(2017)
• Page Start: 51
• Page End: 55
• Publication Date: 2017-04-03
• Subjects: CAD -- Niemann-pick Type C1 Gene -- Polymorphism -- Predisposition -- RFLP; Human genetics -- Periodicals; 599.935
• DOI: 10.1080/09723757.2017.1335486
• Languages: English
• ISSNs: 0972-3757

Abstract

ABSTRACT: Coronary artery disease (CAD) is the most prominent cause of mortality worldwide. The basis of 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 A→G 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 A→G 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 A→G polymorphism in NPC1 gene can be one of the predisposition factor to coronary artery disease in Turkish population.