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

Abstract

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.

<i>ATP-binding cassette transporter A1</i> (<i>ABCA1</i>) R219K (G1051A, rs2230806) polymorphism and serum high-density lipoprotein cholesterol levels in a large Japanese population: cross-sectional data from the Daiko Study

“…A lot of supposed glycosylated sites have been reported within this loop, and a lot of potential losses in the variants that induce the function determining the level of HDL-C have been suggested [22]. Meanwhile, some other studies even suggest that ABCA1 219K allele modified the risk of CHD without important modification of plasma HDL-C level [26]. Either way, given that based on the functional analysis using SIFT and PolyPhen, this R219K variation of ABCA1 is suggested not to be functional in itself, it could rather be causal…”

The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians

“…ABCA1 encodes an important protein that facilitates the formation of HDL-C and regulates the efflux of lipids from peripheral cells into lipid-poor ApoA1 particles, stimulating reverse cholesterol transport. [ 30 ] The association between the ABCA1 gene polymorphisms and CAD has been the focus for many studies [ 31 – 33 ]. The rs2230806 is the most common polymorphism of ABCA1 ; the possible role of rs2230806 in cardiovascular diseases is still debatable as numerous studies have reported divergent results [ 34 , 35 ].…”

Effect of ATP-binding Cassette Transporter A1 (ABCA1) Gene Polymorphisms on Plasma Lipid Variables and Common Demographic Parameters in Greek Nurses

“…Particularly, the R219K (rs2230806) gene polymorphism, which has been related to CHD risk [7], ischemic stroke [8], TGs and HDL-C concentrations [9] was evaluated by Liu et al [10] in meta-analysis that included 13 studies with 11,678 individuals. Significant association between R219K gene polymorphism and increased CHD risk was found in total population analyses in all 4 genetic comparison models.…”