scholarly journals Associations of Polymorphisms in the Apolipoprotein APOA1-C3-A5 Gene Cluster with Acute Coronary Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Yan Ding ◽  
Ming An Zhu ◽  
Zhi Xiao Wang ◽  
Jing Zhu ◽  
Jing Bo Feng ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Acute Coronary Syndromes ◽  
Lipid Homeostasis ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Coronary Syndrome ◽  
Minor Alleles ◽  
Coronary Syndromes

Background. Acute coronary syndromes (ACSs) are clinically cardiovascular events associated with dyslipidemia in common. Single nucleotide polymorphisms (SNPs) and haplotypes in the APOA1/C3/A5 gene cluster are associated with diabetes and familial combined hyperlipidaemia (FCH). Little is known about whether the polymorphisms in these genes affect lipid homeostasis in patients with ACSs. The present paper aimed to examine these associations with 4 SNPs in the APOA1 −75G>A, the APOC3 −455T>C, and APOA5 −1131T>C, c.553G>Tvariant to ACSs in Chinese Han.Methods. Chinese Han of 229 patients with ACSs and 254 unrelated controls were analyzed. Four SNPs in APOA1/C3/A5 cluster were genotyped and lipid was determined.Results. Our data show that minor allelic frequencies of APOC3 −455T>C, APOA5 −1131T>C, and c.553G>Tpolymorphisms in patients with ACSs were significantly higher than control group (P<0.05). Furthermore, the 3 polymorphic sites were strongly of linkage disequilibrium, and minor alleles of 3 SNP sites had higher TG level than wild alleles (P<0.05), APOC3 −455C and APOA5 c.553T allele carriers also had lower level of HDL-C.Conclusions. The minor alleles of APOC3 −455T>C, APOA5 −1131T>C, and c.553G>Tpolymorphisms are closely associated with ACSs.

scholarly journals Association between CCN1 gene polymorphism and acute coronary syndrome in Chinese Han and Uygur populations

Hereditas ◽  
2021 ◽  
Vol 158 (1) ◽  
Author(s):  
Yan-Hong Li ◽  
Jun-Yi Luo ◽  
Bin-Bin Fang ◽  
Guo-Li Du ◽  
Ting Tian ◽  
...  
Keyword(s):  
Recessive Model ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Coronary Syndrome ◽  
Significant Difference ◽  
And Control ◽  
Control Study ◽  
Uygur Population

Abstract Background CCN1 plays a crucial role in the modulation of cardiovascular diseases. However, whether CCN1 genetic variants are involved in the susceptibility of ACS remains unknown. Hence, the present study investigates the association between CCN1 polymorphisms and ACS among Han and Uygur populations in Xinjiang, China. Results In this case-control study, 1234 Han (547 ACS patients and 687 controls) and 932 Uygur (471 ACS patients and 461 controls) were genotyped using SNPscanTM for three single-nucleotide polymorphisms (SNPs, rs6576776, rs954353, and rs3753794) of the human CCN1 gene. In the Uygur population, we found that the detected frequencies of the C allele (25.3% vs. 18.3%, P<0.001) and CC genotype (6.4% vs. 3.0%, P=0.001) of rs6576776 were significantly higher in the ACS patients than in the control participants. Differences in rs6576776 regarding the dominant model (CC+CG vs. GG, 44.2% vs. 55.8%, P=0.001) and the recessive model (CC vs. CG+GG, 6.4% vs. 93.6%, P=0.016) were observed between the two groups. The frequencies of the GGC and AGC haplotypes in those with ACS were significantly higher than those in the control group (all P<0.05) in the Uygur population. After adjusting for hypertension, diabetes, lipids and smoking, all of which indicate that the rs6576776 C allele is associated with higher risk of ACS (odds ratio (OR)=1.798, 95% confidence interval (CI), 1.218-2.656, P=0.003). In Han population, neither the distribution of genotypes and alleles of the CCN1 gene three SNPs nor the distribution of haplotypes constructed with the three SNPs exhibited a significant difference between the ACS patients and control participants. Conclusions Our study document that the CCN1 gene rs6576776 C allele is associated with higher susceptibility of ACS and that the frequencies of GGC and AGC haplotypes are higher among the Uygur ACS patients.

scholarly journals Clinical predictors and angiographic features of acute coronary syndromes caused by systemic embolism

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Jeronimo Baza ◽  
C Salazar ◽  
M.J Perez Vyzcaino ◽  
L Nombela ◽  
P Jimenez Quevedo ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Hospital Mortality ◽  
Acute Coronary Syndromes ◽  
Tertiary Hospital ◽  
Control Group ◽  
Systemic Embolism ◽  
Clinical Predictors ◽  
Coronary Syndrome ◽  
Valvular Surgery ◽  
Coronary Syndromes

Abstract Introduction Systemic embolism to coronary arteries is one of the mechanisms of acute myocardial infarction (AMI) of non-atherosclerotic cause. However, its clinical profile has not been properly established yet. Purpose To identify clinical predictors and angiographic characteristics of acute coronary syndromes caused by systemic embolism to a principal coronary artery (ACS-E), as well as to describe in-hospital mortality of these patients. Methods 40 patients with ACS-E, admitted between 2003 and 2018 in a tertiary hospital. Epidemiological, clinical and angiographic characteristics of these cases were compared with those from 4989 patients, attended for acute coronary syndrome of atherosclerotic cause (ACS-A) in the same hospital during the same period. Results Patients with ACS-E were younger (28% vs 10% were &lt;45 years old, p&lt;0.001) and had a higher proportion of women (43% vs 22%, p 0.003), atrial fibrillation (40% vs 5%, p&lt;0.001) and neoplasia (18% vs 7%, p 0.009). They had also undergone previous valvular surgery more frequently than patients with ACS-A (13% vs 0.5%, p&lt;0.001) and a higher proportion of them were under treatment with warfarin (15% vs 3%, p&lt;0.001). Variables identified as independent predictors of ACS-E in the multivariate analysis are shown in the table. Regarding clinical presentation, ST elevation AMI was more frequent in ACS-E cases (83% vs 67%, p 0.04). Patients with ACS-E did not present any significative stenosis in other vessels apart from the culprit one (number of other vessels with at least 1 severe stenosis was 0 in the ACS-E group vs 1.33 + 1 in the ACS-A arm, p&lt;0.001). PCI was attempted in 75% of the patients with ACS-E, resulting successful in 80% of the cases. On the other hand, 100% of SCA-A underwent PCI, with a success proportion of 99% (p&lt;0.001). In-hospital mortality in ACS-E group was 15% and 4% in the control group (p&lt;0.001). Conclusions ACS-E and ACS-A have different clinical and angiographic features. Atrial fibrillation, chronic warfarin treatment, previous valvular surgery, presence of any neoplasia and female sex are independent predictors for ACS-E. Funding Acknowledgement Type of funding source: None

scholarly journals Correlation between miRNA target site polymorphisms in the 3′ UTR of AVPR1A and the risk of hypertension in the Chinese Han population

2019 ◽  
Vol 39 (5) ◽  
Author(s):  
Liuping Zhang ◽  
Jinwei Liu ◽  
Peng Cheng ◽  
Fangchao Lv
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Mirna Target ◽  
Direct Sequencing ◽  
Chinese Han Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Increased Risk

Abstract We aimed to study the relationship between rs11174811 and rs3803107 single nucleotide polymorphisms (SNPs) in miRNA target sites of the 3′ UTR in the arginine vasopressin receptor 1a gene (AVPR1A) and the risk of hypertension in the Chinese Han population. The genotypes at rs11174811 and rs3803107 were analyzed by direct sequencing in 425 Chinese Han patients with hypertension and 425 healthy subjects. AVPR1A expression was investigated by transfecting miR-526b, miR-375, and miR-186 mimics into human umbilical vein endothelial cells (HUVECs) containing AVPR1A rs11174811 CC, CA/AA and AVPR1A rs3803107 GG, GA/AA genotypes. The A alleles of rs11174811 (adjusted OR = 1.424, 95% CI: 1.231–1.599, P<0.001) and rs3803107 (adjusted OR = 1.222, 95% CI: 1.092–1.355; P=0.001) were high risk factors for hypertension. Plasma levels of miR-526b, miR-375, and miR-186 were higher in the study group than in the control group (P<0.001). The expression levels of AVPR1A mRNA in AVPR1A rs11174811 and rs3803107 mutant HUVECs were higher than those in wild-type cells (t = 8.811, 4.068 and P=0.001, 0.015, respectively). The single nucleotide polymorphisms rs11174811 and rs3803107 in the AVPR1A gene are associated with an increased risk of hypertension in the Chinese Han population. This may be related to the effect of these variants on the regulation of AVPR1A expression by miRNAs.

NOTCH4 Single-Nucleotide Polymorphism Is Associated With Brain Arteriovenous Malformation in a Chinese Han Population

2021 ◽  
Author(s):  
Jianbo Zhang ◽  
Zhenjun Li ◽  
Haiyan Fan ◽  
Hengxian Su ◽  
Hongliang Meng ◽  
...  
Keyword(s):  
Arteriovenous Malformation ◽  
Gene Polymorphisms ◽  
Vascular Malformations ◽  
Chinese Han Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Genotype Frequencies

Abstract Background: Brain arteriovenous malformations (BAVMs) are high-flow intracranial vascular malformations characterized by the direct connection of arteries to veins without an intervening capillary bed. It is one of the main causes of intracranial hemorrhage and epilepsy though morbidity is low. Angiogenesis, heredity, inflammation, and arteriovenous malformation syndromes play important roles in BAVM formation. Animal experiments and previous studies have confirmed that NOTCH4 may be associated with BAVM development. Our study identifies a connection between NOTCH4 gene polymorphisms and BAVM in a Chinese Han population.Methods: We enrolled 150 patients with BAVMs confirmed by digital subtraction angiography (DSA) in the Department of Neurosurgery, Zhujiang Hospital, Southern Medical University from June 2017 to July 2019. Simultaneously, 150 patients without cerebrovascular disease were confirmed by computed tomography angiography/magnetic resonance angiography/DSA. DNA was extracted from peripheral blood and NOTCH4 genotypes were identified by PCR-ligase detection reaction. Chi-square test or Fisher’s exact test was used to evaluate the difference in allele and genotype frequencies between the BAVM group, control group, bleeding, and other complications.Results: Two single-nucleotide polymorphisms (SNPs), rs443198 and rs438475, were significantly associated with BAVM. No SNP genotypes were significantly associated with hemorrhage and epilepsy. SNPs rs443198_ AA-SNP and rs438475_ AA-SNP may be associated with lower risk of BAVM (P = 0.011, OR = 0.459, 95% CI 0.250–0.845; P = 0.033, OR = 0.759, 95% CI 0.479–1.204).Conclusion: NOTCH4 gene polymorphisms were associated with BAVM and may be a risk factor in a Chinese Han population.

Increased circulating erythrocyte-derived microparticles in patients with acute coronary syndromes

2021 ◽  
Author(s):  
Hai-xia Liao ◽  
Lin-lin Meng ◽  
Xin Yu ◽  
Ming Song ◽  
Guo-kai Shang ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Flow Cytometry ◽  
Acute Coronary Syndromes ◽  
Control Group ◽  
Gensini Score ◽  
Coronary Syndrome ◽  
Coronary Artery Disease Severity ◽  
Coronary Syndromes ◽  
Artery Disease ◽  
Group Flow

Objective: This study is to explore the predictive value of erythrocyte-derived microparticles (ErMPs) in patients with acute coronary syndrome (ACS). Materials & methods: Total 305 subjects were enrolled and divided into the control group and ACS group. Flow cytometry was used to detect the ErMPs. The Gensini score was calculated based on the results of the coronary angiography. Results: Compared with that in the control group, the ErMPs concentration in the ACS group increased significantly and the concentration of ErMPs was correlated with the ACS risk. The concentration of ErMPs and the percentage of ErMPs were positively correlated with the Gensini score. Conclusion: ErMPs may be a new biomarker for predicting the ACS risk and the coronary artery disease severity.

Association study between variants in the fibrinogen gene cluster, fibrinogen levels and hypertension: Results from the MONICA/ KORA study

2009 ◽  
Vol 101 (02) ◽  
pp. 317-324 ◽  
Author(s):  
Melanie Kolz ◽  
Jens Baumert ◽  
Henning Gohlke ◽  
Harald Grallert ◽  
Angela Döring ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Population Based ◽  
Phenotypic Variance ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Future Studies ◽  
Modest Contribution ◽  
Minor Alleles ◽  
Specific Association ◽  
Gender Specific

SummaryPrevious studies reported a gender-specific association between plasma fibrinogen concentrations and incident hypertension. We systematically analysed polymorphisms and haplotypes across the fibrinogen gene cluster with fibrinogen levels and assessed their contribution to prevalent hypertension in 2,200 men and 2,159 women from the population-based MONICA/KORA Augsburg study. Eleven tagging single nucleotide polymorphisms (SNPs) were systematically selected in the three fibrinogen genes and haplotypes were reconstructed. The minor alleles of two SNPs, rs2227401 (FGB) and rs2070016 (FGA) and the haplotypes tagged by those variants, were significantly associated with higher fibrinogen concentrations in both, men and women, explaining 1% of the total variance of fibrinogen concentrations. In addition, a FGG haplotype, tagged by rs1049636, was associated with lower concentrations of fibrinogen in women, but not in men. Regarding hypertension, we detected a significant association with a FGA promoter variant (rs2070008) in women only, whereas fibrinogen haplotypes were not associated with hyper-tension after correction for multiple comparisons in either men or women. In conclusion, our results suggest that variants in all three fibrinogen genes are significantly associated with differences in fibrinogen concentrations with modest contribution to phenotypic variance. It is likely that other genetic variants outside the fibrinogen gene loci are involved in the regulation of fibrinogen concentrations. In addition, one FGA promoter variant was significantly associated with hypertension in women. Confirmation of these findings by future studies is warranted.

scholarly journals Association of IL-4 Polymorphisms with Allergic Rhinitis in Jordanian Population

Medicina ◽  
2020 ◽  
Vol 56 (4) ◽  
pp. 179
Author(s):  
Baeth Moh’d Al-Rawashdeh ◽  
Ahmed Sadaalhanjori ◽  
Elnagi Ali ◽  
Malek Zihlif
Keyword(s):  
Allergic Rhinitis ◽  
Single Nucleotide Polymorphisms ◽  
Allelic Frequency ◽  
Population Variation ◽  
Interleukin 4 ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Minor Alleles ◽  
Polymerase Chain

Background and objectives: Allergic rhinitis has complex patterns of inheritance, and single nucleotide polymorphisms, a common genetic variation in a population, exert a significant role in allergic rhinitis pathology. The current study aimed to investigate the association of Interleukin-4 (IL-4) polymorphisms with allergic rhinitis. Materials and Methods: Our study included 158 patients with allergic rhinitis and 140 healthy controls from Jordan that were genotyped for IL-4 single nucleotide polymorphisms (SNPs) C-589T (rs2243250) and T-2979G (rs2227284) using restriction fragment length polymorphism-polymerase chain reaction. Statistical analysis was conducted using IBM SPSS Statistics version 24 software. Results: The results showed that the allelic frequency of the minor alleles was 0.19 and 0.67 for C-589T (rs2243250) and T-2979G (rs2227284) in the allergic rhinitis patients, respectively, while it was 0.18 for C-589T (rs2243250) and 0.64 T-2979G (rs2227284) in the control group. The homozygous (TT) genotype of C-589T (rs2243250) was significantly associated with allergic rhinitis (p < 0.05), while there was no association of any of T-2979G (rs2227284) genotypes with allergic rhinitis. Conclusions: The results of this study indicate that genetic inter-population variation precipitates the differences in the percentages of many diseases among populations, including allergic rhinitis.

Variants in RETN gene are associated with Steroid-induced osteonecrosis of the femoral head risk among Han Chinese People

2019 ◽  
Author(s):  
Feimeng An ◽  
Litian Zhang ◽  
Hongyan Gao ◽  
Jiaqi Wang ◽  
Chang Liu ◽  
...  
Keyword(s):  
Lipid Metabolism ◽  
Femoral Head ◽  
Clinical Stage ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Stratified Analysis ◽  
Significant Linkage ◽  
Control Study

Abstract Introduction Gene polymorhisms has an important influence on RETN gene expression level, and the increased level of resistin encoded in RETN will lead to metabolic disorder, especially lipid metabolism. Moreover, steroid-induced osteonecrosis of the femoral head (steroid-induced ONFH) is closely related to lipid metabolism level, so this study aims to explore the association of RETN Polymorphisms with susceptibility to steroid-induced ONFH in the Chinese Han Population.Methods In this case-control study, eight single nucleotide polymorphisms (SNPs) of RETN were genotyped by Agena MassARRAY system in 199 steroid-induced ONFH patients and 200 healthy controls. The association between RETN polymorphisms and steroid-induced ONFH risk was evaluated using genetic models and haplotype analyses. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by logistic regression adjusted for age.Results We found significant differences in the distribution of HDL-C, TG/HDL-C, and LDL-C/HDL-C between the patients and the control group (p < 0.05). In allele model and genotype model analysis, rs34861192, rs3219175, rs3745368 and rs1477341 could reduce the risk of steroid-induced ONFH. Further stratified analysis showed that rs3745367 was related to the clinical stage of patients, and rs1477341 was significantly correlated with an increased TG level and a decreased TC/ HDL-C level. The Linkage analysis showed that three SNPs (rs34861192, rs3219175) in RETN even significant linkage disequilibrium.Conclusions Our results provide the firstly evidence that RETN gene polymorphisms were associated with a reduced risk of steroid-induced ONFH in Chinese Han Population.

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