scholarly journals PCSK9 E670G polymorphism increases risk of coronary artery disease in a Chinese Han population

2019 ◽  
pp. 030006051989217 ◽  
Author(s):  
Zhang Lin ◽  
Shi Hong Wang ◽  
Da Yong Wei ◽  
Lu Min Wang ◽  
Zhong Wu Zhang

Objective Coronary artery disease (CAD) is the leading cause of morbidity and mortality in the world. The proprotein convertase subtilisin/kexin type 9 ( PCSK9) E670G polymorphism has been reported to be associated with variability in levels of low density lipoprotein cholesterol, a risk factor for CAD. However, the relationship between PCSK9 E670G and CAD is still not fully elucidated. Methods A total of 225 patients and 189 control subjects were recruited in this study. DNA was extracted from peripheral blood samples and was genotyped by mass array method. In addition, we also conducted a meta-analysis of case-control studies to elucidate the relationship of CAD and polymorphism. Results The GG genotype of PCSK9 E670G was associated with a higher risk of CAD [odds ratio (OR) 2.994, 95% confidence interval (CI): 1.174–7.631], even adjusting for risk factors (OR 2.794, 95% CI: 1.215–7.460). Logistic regression analysis showed that the dominant genetic model increased the CAD risk (OR 2.313, 95% CI: 1.070–6.983) after adjusting the confounding factors. Meta-analysis results of 13 studies revealed that PCSK9 E670G polymorphism was correlated with CAD risk under different genetic models. Conclusion Our results demonstrated that PCSK9 E670G genotype was associated with a high risk of CAD.

2018 ◽  
Vol 38 (2) ◽  
Author(s):  
Wen-Qi Ma ◽  
Ying Wang ◽  
Xi-Qiong Han ◽  
Yi Zhu ◽  
Nai-Feng Liu

Lipoprotein lipase (LPL) is widely linked to lipid and lipoprotein metabolism, but its effects on coronary artery disease (CAD) are not clearly elucidated. The aim of the present study was to clarify the association between LPL gene polymorphisms and CAD susceptibility. The pooled odds ratio (OR) and 95% confidence interval (CI) were calculated to estimate the strength of the relationship between LPL gene polymorphisms and CAD risk. Comprehensive electronic databases, including PubMed, EMBASE, Web of Science, and the Cochrane Library, were systematically searched. A total of 45 records containing 80 eligible studies were analyzed. The results indicated an increased risk between the LPL D9N polymorphism and susceptibility to CAD in the dominant genetic model (AA + GA vs. GG: OR = 1.46, 95% CI = 1.14–1.87), whereas the LPL HindIII polymorphism showed a protective effect against CAD under all tested models (GG + GT vs. TT: OR = 0.85, 95% CI = 0.75–0.97; GG vs. TT + TG: OR = 0.62, 95% CI = 0.47–0.83; G vs. T: OR = 0.81, 95% CI = 0.71–0.92). No significant association was identified for the LPL N291S and PvuII polymorphisms. Stratification analysis by ethnicity suggested a significant correlation between the LPL S447X polymorphism and CAD susceptibility in Caucasians under the dominant and allele genetic models. In summary, our meta-analysis indicated that the LPL D9N polymorphism was associated with an increased risk of CAD, whereas the S447X and HindIII polymorphisms showed protective effects. There was no association observed between the N291S and PvuII polymorphisms and CAD risk.


PeerJ ◽  
2015 ◽  
Vol 3 ◽  
pp. e1412 ◽  
Author(s):  
Rui Chen ◽  
Ning Gu ◽  
Ying Gao ◽  
Wei Cen

Background.Previous studies have shown conflicting results on the association between toll-like receptor 4 (TLR4) Asp299Gly (rs4986790) polymorphism and coronary artery disease (CAD). The aim of this study was to evaluate the influence of TLR4 Asp299Gly polymorphism on CAD risk, CRP level and the number of stenotic coronary arteries, as well as to investigate whether G allele carriers would benefit more from statin treatment.Methods.PubMed, EMBASE, and CNKI databases were searched until May 2015. All the statistical tests were performed using R version 3.1.2. Odds ratio (OR) and 95% confidence interval (CI) were used to assess the association between TLR4 Asp299Gly polymorphism and CAD risk, the number of stenotic vessels, and the incidence of cardiovascular events according to statin-treated patients. Weighted mean difference (WMD) was calculated for the association between Asp299Gly and CRP level.Results.Overall, 12 case-control studies with 10,258 cases and 5,891 controls were included, and no association of TLR4Asp299Gly polymorphism with CAD was found (G allele vs. A allele: OR = 0.97, 95% CI [0.81–1.17],P= 0.75; AA vs. GG + AG: OR = 0.97, 95% CI [0.80–1.18],P= 0.76; GG vs. AG + AA: OR = 1.08, 95% CI [0.57–2.02],P= 0.82; AG vs. AA + GG: OR = 1.03, 95% CI [0.85–1.25],P= 0.74). Also, no association was noted between Asp299Gly and CRP level (WMD = −0.10, 95% CI [−0.62, 0.41],P= 0.69). Furthermore, no synergistic effect of statin and 299Gly was reported (Statin_AA vs. Statin_AG/GG: OR = 1.12, 95% CI [0.41–3.09],P= 0.82).Discussion.This meta-analysis suggests no association of TLR4 Asp299Gly polymorphism with CAD and CRP level. It is further indicated that the G allele carriers may not benefit more from statin treatment. Further studies should include large sample size and high-quality literature to understand this issue in depth.


Hereditas ◽  
2021 ◽  
Vol 158 (1) ◽  
Author(s):  
Dilare Adi ◽  
Jialin Abuzhalihan ◽  
Jing Tao ◽  
Yun Wu ◽  
Ying-Hong Wang ◽  
...  

Abstract Background Coronary artery disease (CAD) is the leading cause of death worldwide. In this study, we aimed to explore whether some genetic variants of the human IDOL gene were associated with CAD among Chinese population in Xinjiang. Methods We designed two independent case–control studies. The first one included in the Han population (448 CAD patients and 343 controls), and the second one is the Uygur population (304 CAD patients and 318 controls). We genotyped three SNPs (rs2072783, rs2205796, and rs909562) of the IDOL gene. Results Our results revealed that, in the Han female subjects, for rs2205796, the distribution of alleles, dominant model (TT vs. GG + GT) and the additive model (GG + TT vs. GT) showed significant differences between CAD patients and the control subjects (P = 0.048, P = 0.014, and P = 0.032, respectively). Conclusions The rs2205796 polymorphism of the IDOL gene is associated with CAD in the Chinese Han female population in Xinjiang, China.


2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Li-li Liang ◽  
Lin Chen ◽  
Meng-yuan Zhou ◽  
Meng-yun Cai ◽  
Jie Cheng ◽  
...  

Endothelin-1 (ET-1) plays important roles in endothelial dysfunction, vascular physiology, inflammation, and atherosclerosis. Nonetheless, the role of ET-1 (EDN1) gene variants on coronary artery disease (CAD) risk remains poorly understood. The aim of the present study was to evaluate the role of EDN1 gene polymorphisms on individual susceptibility to CAD. We genotyped five tagSNPs (single-nucleotide polymorphisms) (rs6458155, rs4145451, rs9369217, rs3087459, and rs2070699) within EDN1 gene in 525 CAD patients and 675 control subjects. In a multivariate logistic regression analysis, we detected an association of rs6458155 in EDN1 gene with the CAD risk; compared with the TT homozygotes, the CT heterozygotes (odds ratio (OR) = 1.53, 95% confidence interval (CI) = 1.02–2.29, P=0.040) and the CC homozygotes (OR = 1.55, 95% CI = 1.01–2.36, P=0.043) were statistically significantly associated with the increased risk for CAD. A similar trend of the association was found in dominant model (OR = 1.53, 95% CI = 1.05–2.25, P=0.029). Consistently, the haplotype rs6458155C-rs4145451C containing rs6458155 C allele exhibited the increased CAD risk (OR = 1.22, 95% CI = 1.03–1.43, and P=0.018). In addition, CT genotype of rs6458155 conferred the increased plasma ET-1 levels compared with TT genotype (P<0.05). No association of the other four tagSNPs in EDN1 gene with CAD risk was observed. In conclusion, our study provides the first evidence that EDN1 tagSNP rs6458155 is associated with CAD risk in the Chinese Han population, which is probably due to the influence of the circulating ET-1 levels.


2021 ◽  
Author(s):  
Xinyi Zhang ◽  
Sicong Li ◽  
Yuxuan Zhao ◽  
Ningjia Tang ◽  
Tong Jia ◽  
...  

Aim: The aim of this study was to assess the association between PEAR1 polymorphisms and ischemic clinical outcomes. Materials & methods: We searched the electronic database for articles on the relationship of PEAR1 SNPs and ischemic events in patients with coronary artery disease (CAD) up to October 2020. Results: A total of 9914 patients with CAD from six studies focusing on 12 SNPs of PEAR1 were included in this study. The A allele of rs12041331 were associated with ischemic events (odds ratio: 1.40; 95% CI: 1.04–1.88; p = 0.03). The AA homozygotes of rs2768759 was related to a higher risk of ischemic events than carriers of the C allele (odds ratio: 2.08; 95% CI: 1.09–3.97; p = 0.03). Conclusion: PEAR1 rs12041331 and rs2768759 are significantly associated with ischemic events in patients with CAD.


1999 ◽  
Vol 123 (12) ◽  
pp. 1219-1222 ◽  
Author(s):  
I. Cetin Ozturk ◽  
Anthony A. Killeen

Abstract Background.—Coronary artery disease (CAD) is a major cause of morbidity and mortality in most Western countries and its origin involves a significant genetic component. Methods.—Genetic and epidemiologic studies have been performed to identify factors that influence the CAD risk in the population. Results.—The primary loci that have been demonstrated to be associated with increased CAD risk owing to genetic mutations include the low-density lipoprotein receptor, apolipoprotein B-100, and lipoprotein(a). Additional implicated loci include lipoprotein lipase, apolipoprotein CII, cholesteryl ester transfer protein, apolipoprotein AI, and lecithin–cholesterol acyl transferase. Conclusions.—Numerous mutations in known genes exert a major effect on CAD risk in some patients. However, in most patients with CAD, the genetic component is believed to be attributable to the aggregate effect of loci that, individually, exert only a minor influence on lipoprotein levels.


2019 ◽  
Vol 95 (1120) ◽  
pp. 67-71 ◽  
Author(s):  
Lishan Chen ◽  
Hang Qian ◽  
Zhihuan Luo ◽  
Dongfeng Li ◽  
Hao Xu ◽  
...  

BackgroundCoronary artery disease (CAD) is the most frequent multifactorial disease worldwide and is characterised by endothelial injury, lipid deposition and coronary artery calcification. The purpose of this study was to determine the allelic and genotypic frequencies of two loci (rs2026458 and rs9349379) of phosphatase and actin regulator 1 (PHACTR1) to the risk of developing CAD in the Chinese Han population.MethodsA case–control study was conducted including 332 patients with CAD and 119 controls. Genotype analysis was performed by PCR and Sanger sequencing. Genetic model analysis was performed to evaluate the association between single nucleotide polymorphisms and CAD susceptibility using Pearson’s χ2 test and logistic regression analysis.ResultsThe GG genotype of rs9349379 represented 50% and 29% of patients with CAD and controls, respectively (p<0.001). The CC genotype of rs2026458 was more prevalent in the controls than in patients with CAD compared with TT genotype (OR=0.548, 95% CI 0.351 to 0.856, p=0.008). Logistic regression analyses revealed that PHACTR1 rs9349379 GG genotype was significantly associated with increased risk of CAD in the recessive model (OR=2.359, 95% CI 1.442 to 3.862, p=0.001), even after adjusting for age gender, hypertension, type 2 diabetes, hyperlipidaemia and smoking habit. Heterogeneity test proved that rs9349379’s risk effects on CAD were more significant among women.ConclusionsOur study indicate that the PHACTR1 rs9349379 polymorphism is associated with the increased risk for CAD in the female Chinese Han population.


Angiology ◽  
2018 ◽  
Vol 69 (9) ◽  
pp. 825-834 ◽  
Author(s):  
Fuling Yu ◽  
Jianwei Li ◽  
Qilei Huang ◽  
Hongbin Cai

A comprehensive quantitative evaluation of the relationship between peripheral blood visfatin concentrations and coronary artery disease (CAD) is lacking. This study is the first attempt to quantify this relationship via a meta-analysis of published observational studies in terms of weighted mean difference (WMD). Literature retrieval, article selection, and data extraction were conducted. Heterogeneity was inspected using both subgroup and meta-regression analyses. In total, 15 articles involving 1053 CAD cases and 714 controls were included. Overall, peripheral blood visfatin concentrations were significantly higher in CAD cases than in controls (WMD: 4.72 ng/mL; 95% confidence interval [CI]: 2.97-6.47; P < .001), with significant heterogeneity and publication bias. Six studies were theoretically missing based on filled funnel plot, and considering the impact of these missing studies still detected a significant overall mean difference in visfatin (WMD: 2.82 ng/mL; 95% CI: 2.22-3.58; P < .001; number of studies: 21). Subgroup and meta-regression analyses indicated age, body mass index, race, diabetes, systolic blood pressure, triglycerides, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol were identified as possible causes of heterogeneity. In conclusion, our findings suggest that increased peripheral blood visfatin concentrations may be a risk marker of CAD.


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