title: Association between the rs1805081 polymorphism of Niemann-Pick type C1 gene and cardiovascular disease in a sample of an Iranian population.
abstract: The aim of the present study was to investigate the association between a genetic variation, A+644G, in the Niemann-Pick type C1 (NPC1) gene and the risk of cardiovascular disease (CVD) in a Southeast Iranian population. A total of 320 individuals, including 200 patients with CVD and 120 healthy individuals, were involved in the present study. The polymorphism was determined using a polymerase chain reaction-restriction fragment length polymorphism method. The results indicated that the frequency of the GG genotype was markedly lower in patients with CVD compared with the control group (7 vs. 16.7%), and that the NPC1 rs1805081 polymorphism was associated with reduced risk of CVD [odds ratio (OR)=0.110; 95% confidence interval (CI)=0.017-0.715; P=0.021]. In addition, the prevalence of the minor allele (G) in patients with CVD differed from that of the control group with the frequency of 25.5 and 33.4% for the former and latter, respectively, and this difference reached statistical significance (OR=0.658; 95% CI=0.482-0.971; P=0.037). Furthermore, analysis of clinical characteristics of the individuals according to the NPC1 genotypes revealed an association between the lipid profile and NPC1 gene polymorphism. These findings demonstrated that the NPC1 A+644G variant was associated with reduced risk of CVD and serves a protective role against susceptibility to CVD in the Iranian population.
authors.affiliation: Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Masoumeh
authors.initials: M
authors.lastname: Afzali
authors.affiliation: Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran; Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Hashemi
authors.affiliation: Department of Cardiology, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Seyed Payman
authors.initials: SP
authors.lastname: Tabatabaei
authors.affiliation: Department of Anesthesia, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Kourosh Tirgar
authors.initials: KT
authors.lastname: Fakheri
authors.affiliation: Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran; Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan 9816743175, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Nakhaee
keywords: NPC1; cardiovascular disease; genetic polymorphism