ATP-Binding Cassette Transporter A1 Gene I823M Polymorphism Affects Plasma High-Density Lipoprotein Cholesterol Level and Modifies the Effect of Low High-Density Lipoprotein Cholesterol on the Risk of Coronary Artery Disease

Tsai, Chia Ti; Hwang, Juey‐Jen; Chiang, Fu-Tien; Tseng, Chuen Den; Lin, Jiunn Lee; Tseng, Yung Zu; Lai, Ling‐Ping

doi:10.1159/000099069

Cited by 7 publications

(1 citation statement)

References 45 publications

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“…This finding is in line with a previous study done by Song et al . 30 However, several other studies 12 13 31 32 demonstrated no association between the rs4149313 polymorphism and CAD in Asians and Caucasians. To clarify this discrepancy, Fan et al 33 conducted a meta-analysis recently on the association between the rs4149313 polymorphism and CAD risk, and the results suggested that there is a significant association in Asians, but not in Caucasians.…”

Section: Discussionmentioning

confidence: 98%

Effects of ABCA1 gene polymorphisms on risk factors, susceptibility and severity of coronary artery disease

Wang

Jia

et al. 2020

Postgraduate Medical Journal

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BackgroundThe relationships between the rs1800976, rs4149313 and rs2230806 polymorphisms in ATP binding cassette protein A1 and severity of coronary artery disease (CAD) remain unclear.MethodsFour hundred and forty-two patients with CAD and 217 CAD-free subjects were enrolled in this study. The rs1800976, rs4149313 and rs2230806 polymorphisms were genotyped by PCR-RFLP. Severity of CAD was evaluated by Gensini score system, number of stenotic coronary vessels and extent of coronary stenosis.ResultsC allele of the rs1800976 polymorphism, G allele of the rs4149313 polymorphism and A allele of the rs2230806 polymorphism were found to be risk alleles for CAD (p<0.05 for all). In patients with CAD, C allele of the rs1800976 polymorphism was associated with high levels of hypersensitive C reactive protein (hs-CRP) and cystatin c (CysC), and its frequency increased with percentiles of Gensini score, number of stenotic coronary vessels and extent of coronary stenosis (p<0.05 for all). The subjects with GA genotype of the rs4149313 polymorphism had higher levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), apolipoprotein B and hs-CRP than those with AA genotype (p<0.05 for all). The subjects with AA genotype of the rs2230806 polymorphism had higher levels of TC, LDL-C and uric acid than those with GA genotype (p<0.05 for all). No associations between the rs4149313 or rs2230806 polymorphism and severity of CAD were detected.ConclusionsThe rs1800976 polymorphism is significantly associated with the occurrence and severity of CAD, which is possibly mediated by hs-CRP and CysC.

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Section: Discussionmentioning

confidence: 98%

Effects of ABCA1 gene polymorphisms on risk factors, susceptibility and severity of coronary artery disease

Wang

Jia

et al. 2020

Postgraduate Medical Journal

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Effect of ABCA1 mutations on risk for myocardial infarction

Iatan¹,

Al-Rasadi²,

Ruel³

et al. 2008

Curr Atheroscler Rep

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The adenosine triphosphate-binding cassette A1 (ABCA1) gene codes for a cellular phospholipid and cholesterol transporter that mediates the initial and essential step in high-density lipoprotein (HDL) biogenesis: the formation of nascent HDL particles. Mutations at the ABCA1 gene locus cause severe familial HDL deficiency and, in the homozygous form, cause Tangier disease. Several studies have investigated the influence of ABCA1 variation on lipid metabolism and coronary heart disease, but they have resulted in controversial and inconsistent results. Genetic variability at the ABCA1 gene has also been associated with increased risk of myocardial infarction. In one study, this association was independent of HDL cholesterol levels, raising the possibility that the measurement of HDL cholesterol levels may not provide adequate information on the functional roles of HDL particles. Nevertheless, genomic screening for complex diseases, such as coronary heart disease, and HDL deficiency in particular, may not add additional information to that gained from conventional global cardiovascular risk stratification.

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The R219K Polymorphism on ATP-Binding Cassette Transporter A1 Gene is Associated with Coronary Heart Disease Risk in Asia Population: Evidence from a Meta-Analysis

Liu

Hou

Ren

et al. 2014

Cell Biochem Biophys

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A number of case-control studies have been conducted to investigate the relationship between the ATP-binding cassette transporter A1 (ABCA1) gene polymorphisms and risk of coronary heart disease (CHD). However, the results have been inconclusive. The purpose of the present study is to investigate whether this polymorphism confers significant susceptibility to CHD using a meta-analysis. We conducted searches of the published literature in PubMed, Embase, and CBM databases. 13 studies were included in our meta-analysis, involving a total of 11,678 individuals. Subgroup analyses were performed by ethnicity and cancer type. Statistically significant association between ABCA1 gene R219K polymorphism and increased CHD risk was found in total population analyses in all four genetic comparison models (OR(C vs. T) 1.19, 95% CI 1.07-1.31; P = 0.001; OR(Homozygote model) 1.28, 95% CI 1.07-1.52; P = 0.007; OR(Recessive genetic model) 1.22, 95% CI 1.04-1.44, P = 0.015; OR(Dominant model) 1.21, 95% CI 1.07-1.35; P = 0.001). In subgroup analyses based on ethnicity, the association was still significant in Asians (All P values < 0.001), but not in Caucasians (All P values > 0.05). ABCA1 R219K polymorphism is associated with CHD susceptibility, and individuals with ABCA1 have a significantly higher risk of cancer particularly in Asians.

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ATP-Binding Cassette Transporter A1 Gene I823M Polymorphism Affects Plasma High-Density Lipoprotein Cholesterol Level and Modifies the Effect of Low High-Density Lipoprotein Cholesterol on the Risk of Coronary Artery Disease

Cited by 7 publications

References 45 publications

Effects of ABCA1 gene polymorphisms on risk factors, susceptibility and severity of coronary artery disease

Effects of ABCA1 gene polymorphisms on risk factors, susceptibility and severity of coronary artery disease

Effect of ABCA1 mutations on risk for myocardial infarction

The R219K Polymorphism on ATP-Binding Cassette Transporter A1 Gene is Associated with Coronary Heart Disease Risk in Asia Population: Evidence from a Meta-Analysis

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