Naindeep Kaur, Jagtar Singh, Sreenivas Reddy
Many studies conducted worldwide substantiate a role of genetic polymorphisms in non-coding regions linked with coronary artery disease (CAD). One such single nucleotide polymorphism (SNP) of a non-coding RNA in the INK4 locus (ANRIL) i.e. rs1333049 C/G in the vicinity of cell cycle regulating genes is documented to have a role in CAD risk. In this study we aimed to determine the association of ANRIL rs1333049 C/G with CAD in a North Indian population. Five hundred disease free controls and 500 CAD patients were genotyped using allele specific ARMS-PCR method...
2020: Genetics and Molecular Biology
Zun Wang, Chuan Qiu, Xu Lin, Lan-Juan Zhao, Yong Liu, Xinrui Wu, Qian Wang, Wei Liu, Kelvin Li, Hong-Wen Deng, Si-Yuan Tang, Hui Shen
Genome-wide association studies (GWASs) have identified hundreds of single nucleotide polymorphisms (SNPs) associated with type 2 diabetes (T2D) and coronary artery disease (CAD), respectively. Nevertheless, these studies were generally performed for single-trait/disease and failed to assess the pleiotropic role of the identified variants. To identify novel functional loci and the pleiotropic relationship between CAD and T2D, the targeted cFDR analysis on CpG-SNPs was performed by integrating two independent large and multi-centered GWASs with summary statistics of T2D (26,676 cases and 132,532 controls) and CAD (60,801 cases and 123,504 controls)...
March 11, 2020: Molecular Genetics and Genomics: MGG
Muhammad Diah, Aznan Lelo, Zulfikri Muhktar, Dharma Lindarto
Aim To investigate the association of two single-nucleotide polymorphisms (SNPs) of the adiponectin gene (+45 T>G [rs2241766] and +276 G>T [rs1501299]) in patients with coronary artery disease (CAD), coronary slow flow (CSF) and in healthy subjects. Methods The study investigated 90 patients: 30 patients with coronary artery disease (the CAD group), 30 with only coronary slow flow (the CSF group) and 30 healthy patients. Genotyping was carried out for two of these SNPs in the adiponectin gene using the TaqMan polymerase chain reaction (PCR) method...
August 1, 2020: Medicinski Glasnik
Xu Yang, Wei Yang, David G McVey, Guojun Zhao, Jinfu Hu, Robin N Poston, Meixia Ren, Karin Willeit, Stefan Coassin, Johann Willeit, Thomas R Webb, Nilesh J Samani, Manuel Mayr, Stefan Kiechl, Shu Ye
Background Genome-wide association studies have shown an association between the single-nucleotide polymorphism rs17514846 on chromosome 15q26.1 and coronary artery disease susceptibility. The underlying biological mechanism is, however, not fully understood. rs17514846 is located in the FES Upstream Region ( FURIN ) gene, which is expressed in vascular endothelial cells (ECs). We investigated whether rs17514846 has an influence on FURIN expression in ECs and whether FURIN affects EC behavior. Methods and Results Quantitative reverse transcription-polymerase chain reaction analysis showed that cultured vascular ECs from individuals carrying the coronary artery disease risk allele of rs17514846 had higher FURIN expression than cells from noncarriers...
February 18, 2020: Journal of the American Heart Association
Lei Hua, Jin-Xia Yuan, Shu He, Chen-Hui Zhao, Qiao-Wei Jia, Jing Zhang, Feng-Hui An, Zhao-Hong Chen, Li-Hua Li, Lian-Sheng Wang, Wen-Zhu Ma, Guang-Xu Xu, En-Zhi Jia
BACKGROUND: Rs4977574 (A > G) and Rs1333045 (C > T) are both single nucleotide polymorphisms (SNPs) related with coronary artery disease, locating on chromosome 9p21.3. The study aimed to identify the correlation between rs4977574 and rs1333045 polymorphism genotypes and coronary heart disease (CHD) in a Chinese population. METHODS: Blood samples were collected from 855 subjects. A case-control study was used in this experiment, and 598 cases in the CHD group and 257 subjects in the control group were enrolled...
February 17, 2020: BMC Medical Genetics
Haidong Wang, Chao Wang, Wenxiu Han, Chunmei Geng, Dan Chen, Bin Wu, Jun Zhang, Changshui Wang, Pei Jiang
INTRODUCTION: Leptin (LEP) is a peptide hormone that acts via leptin receptor (LEPR) binding. Genetic evidence from different human populations has implicated LEP/LEPR in the pathogenesis of coronary artery disease (CAD), and suggests that certain LEP/LEPR gene polymorphisms may increase the risk of CAD. The aim of this study was to assess two single nucleotide polymorphisms (SNPs) in LEP genes (rs2167270 and rs7799039) and two in LEPR genes (rs6588147, rs1137100) for association with CAD...
2020: Revista da Sociedade Brasileira de Medicina Tropical
Lang-Biao Xu, Yi-Qing Zhang, Nan-Nan Zhang, Biao Li, Jia-Yi Weng, Xiao-Yang Li, Wen-Chao Lu, Pei-Ran Yu, Xi Wang, Yuan Li, Zhen Han, Lu Chen, Hong-Tao He, Ya-Feng Zhou, Xue-Xing Ma, Gui-Dong Xu
BACKGROUND: It has been reported the rs10757274 SNP (present on locus 9p21 in the gene for CDKN2BAS1) might be associated with susceptibility to coronary artery disease (CAD). Owing to mixed and inconclusive results, we conducted a meta-analysis to investigate the association between rs10757274 polymorphism and the risk of CAD. OBJECTIVES: The present study aimed to investigate the relationship between rs10757274 polymorphism and the risk of CAD. METHODS: All studies of the rs10757274 SNP with CAD that were published between 2007 and 2018 were retrieved from the PubMed database...
January 2020: Medicine (Baltimore)
Ahmed Abduljabbar Suleiman, HananYassin Muhsin, Rafid A Abdulkareem, Farah Amer Abed
Atherosclerosis is one of the most important coronary artery disease (CAD) caused by lipid accumulation, hypertension, smoking, and many other factors such as environmental and genetic factors. It has been recorded that genetic variations in rs10757278 and rs1333049 are correlated with CAD. In the present study, 100 blood samples were collected (50 CAD patients and 50 appeared to be healthy controls), who referred to Ibn-Albytar general hospital/in Bagdad city for heart disease from February to March 2019...
September 2019: Molecular Biology Research Communications
Qinglin Yu, Jia Su, Keqi Zhu, Shujun Yang, Hao Zhu, Jingbo Yu
Some patients experience lesser degrees of platelet inhibition, which is known as clopidogrel resistance (CR). The goal of our study was to investigate the effects of Xuefu Zhuyu decoction on CR in coronary artery disease patients and whether P2Y12 polymorphisms and its methylation were related to drug response or not. 49 patients diagnosed with CR were randomly divided into control and treatment groups. Platelet functions were measured using Verify-Now P2Y12 assay. By restriction fragment length polymorphism-polymerase chain reaction, the single-nucleotide polymorphisms of rs2046934 and rs6785930 were genotyped...
November 2019: Pakistan Journal of Pharmaceutical Sciences
Zhou Liu, Xiaojian Yin, Hui Mai, Guangning Li, Zhijun Lin, Wanxin Jie, Kanglan Li, Haihong Zhou, Shouchao Wei, Li Hu, Wanjuan Peng, Jiajing Lin, Feng Yao, Hua Tao, Xing-Dong Xiong, Keshen Li
BACKGROUND: Atherosclerosis is the primary cause of coronary artery disease (CAD), and stearoyl-CoA desaturase (SCD) is associated with atherosclerosis. However, the associations between variants of SCD and CAD have not yet been decided. METHODS: This study analyzed SCD rs41290540 single-nucleotide polymorphism (SNP) in the 3'-untranslated region for an association with a risk of CAD among the Chinese Han population. CAD patients and controls were genotyped for SNP rs41290540 in SCD by SNaPshot...
January 21, 2020: Molecular Genetics & Genomic Medicine
Niels Grote Beverborg, M Abdullah Said, Haye H van der Wal, Niek Verweij, Peter van der Meer, Pim van der Harst
The observation that premenopausal women have a relatively low incidence of heart disease led in the nineteen eighties to the hypothesis that iron deficiency protects against heart diseases. These early observations were followed-up by conflicting epidemiological data. To confer causal relationships from epidemiological data is challenging as results can be influenced by residual confounding or reverse causation. For bias reduction, an alternative analysis strategy utilizing single-nucleotide polymorphisms (SNPs) as instrumental variables (Mendelian Randomization) has been developed...
January 12, 2020: Circulation. Genomic and Precision Medicine
Martina Olsson Lindvall, Marcela Davila Lopez, Sofia Klasson, Lena Hansson, Staffan Nilsson, Tara M Stanne, Christina Jern
Characterizing the relationship between genetic, epigenetic (e.g., deoxyribonucleic acid [DNA] methylation), and transcript variation could provide insights into mechanisms regulating hemostasis and potentially identify new drug targets. Several hemostatic factors are synthesized in the liver, yet high-resolution DNA methylation data from human liver tissue is currently lacking for these genes. Single-nucleotide polymorphisms (SNPs) can influence DNA methylation in cis which can affect gene expression. This can be analyzed through allele-specific methylation (ASM) experiments...
December 30, 2019: Thrombosis and Haemostasis
Jian-Li Li, Liu-Yu Liu, Dong-Dong Jiang, Yi-Ying Jiang, Guo-Qiu Zhou, Dong-Can Mo, Man Luo
BACKGROUND: Previous genome-wide association studies have found two single nucleotide polymorphisms (SNP) rs7692387 and rs1842896 located on or near the GUCY1A3 gene were associated with coronary artery disease (CAD). GUCY1A3 was considered to be involved in the process of atherosclerosis, but there was little information about the association between genotypic polymorphisms of the GUCY1A3 and large artery atherosclerotic (LAA) stroke. This study aimed to investigate the associations between the GUCY1A3 rs7692387, rs1842896 polymorphisms and LAA stroke susceptibility...
December 28, 2019: Lipids in Health and Disease
Ningda Xu, Hui Xu, Mingwei Zhao, Yongsheng Xu, Lvzhen Huang
BACKGROUND: To investigate the association of systemic, serum lipids and genetic variants in the high-density lipoprotein (HDL) metabolic pathway with polypoidal choroidal vasculopathy (PCV) in China. METHODS: The case-control study was included 150 controls and 66 cases with PCV. Serum levels of total cholesterol (TC), low-density lipoprotein (LDL), HDL, triglycerides (TG), apolipoprotein A1 (APOA1), apolipoprotein B (APOB) together with systemic risk factors including gender, hyperlipidemia, diabetes mellitus (DM), hypertension, coronary artery disease (CAD) and asthma were identified...
2019: PloS One
Liu Miao, Guo-Xiong Deng, Rui-Xing Yin, Rong-Jun Nie, Shuo Yang, Yong Wang, Hui Li
BACKGROUND: Although many observational studies have shown an association between plasma homocysteine levels and cardiovascular diseases, controversy remains. In this study, we estimated the role of increased plasma homocysteine levels on the etiology of coronary heart disease and acute myocardial infarction. METHODS: A two-sample Mendelian randomization study on disease was conducted, i.e. "coronary heart disease" ( n  = 184,305) and "acute myocardial infarction" ( n  = 181,875)...
December 16, 2019: European Journal of Preventive Cardiology
Shuai Yuan, Magnus Bäck, Maria Bruzelius, Amy M Mason, Stephen Burgess, Susanna Larsson
Whether circulating fatty acids (FAs) play a causal role in the development of cardiovascular disease (CVD) remains unclear. We conducted a Mendelian randomisation study to explore the associations between plasma phospholipid FA levels and 15 CVDs. Summary-level data from the CARDIoGRAMplusC4D, MEGASTROKE, and Atrial Fibrillation consortia and UK Biobank were used. Sixteen single-nucleotide polymorphisms (SNPs) associated with ten plasma FAs were used as instrumental variables. SNPs in or close to the FADS1 gene were associated with most FAs...
December 7, 2019: Nutrients
Zhaoqing Sun, Shuchao Pang, Yinghua Cui, Bo Yan
Background: Acute myocardial infarction (AMI) which is a specific type of coronary artery disease (CAD), is caused by the combination of genetic factors and acquired environment. Although some common genetic variations have been recorded to contribute to the development of CAD and AMI, more genetic factors and potential molecular mechanisms remain largely unknown. The GATA6 gene is expressed in the heart during embryogenesis and is also detected in vascular smooth muscle cells (VSMCs), different human primary endothelial cells (ECs), and vascular ECs in mice...
2019: Frontiers in Genetics
Mall Eltermaa, Maili Jakobson, Meeme Utt, Sulev Kõks, Reedik Mägi, Joel Starkopf
OBJECTIVE: Coronary artery disease contributes to noncommunicable disease deaths worldwide. In order to make preventive methods more accurate, we need to know more about the development and progress of this pathology, including the genetic aspects. Humanin is a small peptide known for its cytoprotective and anti-apoptotic properties. Our study looked for genomic associations between humanin-like nuclear isoform genes and coronary artery disease using CARDIoGRAMplusC4D Consortium data...
November 21, 2019: BMC Research Notes
Rebecca N Mitchell, Foram N Ashar, Marjo-Riitta Jarvelin, Philippe Froguel, Nona Sotoodehnia, Jennifer A Brody, Sylvain Sebert, Heikki Huikuri, John Rioux, Philippe Goyette, Charles E Newcomb, M Juhani Junttila, Dan E Arking
Background Sudden cardiac death (SCD) accounts for ≈300 000 deaths annually in the United States. Men have a higher risk of SCD and are more likely to have underlying coronary artery disease, while women are more likely to have arrhythmic events in the setting of inherited or acquired QT prolongation. Moreover, there is evidence of sex differences in the genetics of QT interval duration. Using sex- and coronary artery disease-stratified analyses, we assess differences in genetic association between longer QT interval and SCD risk...
December 3, 2019: Journal of the American Heart Association
Haihua Wang, Shufang Zhang, Na Wang, Jie Zhang, Mingkai Chen, Xiaohui He, Yinghua Cui, Shuchao Pang, Bo Yan
BACKGROUND: Coronary artery disease (CAD) including acute myocardial infarction (AMI) is a common complex disease caused by atherosclerosis. Vascular epithelial growth factor receptor-1 (VEGFR-1) stimulates angiogenesis and vascular permeability, and functions as a decoy to sequester VEGF and prevent initiation of intracellular signaling. VEGFR-1 knockout mice exhibit significantly higher mortality due to heart failure, cardiac hypertrophy, and cardiac dysfunction. An evident increase in macrophage infiltration and cardiac fibrosis are also observed after transverse aortic constriction...
November 19, 2019: Human Genomics
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