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. 2017 Jan;6(1):83-88.
doi: 10.3892/br.2016.802. Epub 2016 Nov 7.

Association between the rs1805081 polymorphism of Niemann-Pick type C1 gene and cardiovascular disease in a sample of an Iranian population

Masoumeh Afzali  1 , Mohammad Hashemi  2 , Seyed Payman Tabatabaei  3 , Kourosh Tirgar Fakheri  4 , Alireza Nakhaee  2
Affiliations

Association between the rs1805081 polymorphism of Niemann-Pick type C1 gene and cardiovascular disease in a sample of an Iranian population

Masoumeh Afzali et al. Biomed Rep. 2017 Jan.

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.

Keywords: NPC1; cardiovascular disease; genetic polymorphism.

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Figures

Figure 1.
Figure 1.
Gel patterns of A+644G polymorphism. M, 100 bp ladder; lane 1, homozygous AA genotype; lane 2, homozygous GG genotype; lane 3, heterozygous AG genotype.
See this image and copyright information in PMC

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