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Dysregulation of methyl donor nutrients interferes with DNA methylation and is associated with neurological diseases. ABCG1 gene regulates cholesterol to HDL-C, maintains lipid homeostasis, and has been linked to both methyl nutrition and neurological risks. The aim was to investigate whether there is an effect of ABCG1 DNA methylation on the relationship between intake of methyl donor nutrients and the risk of stroke occurrence. We hypothesize that the intake of methyl donor nutrients may influence stroke occurrence by modulating the methylation status of ABCG1. This study utilized a case-control design and selected 52 stroke patients along with 52 healthy controls from Northwest China. Dietary information was collected using a FFQ, and methylation levels were measured at 29 CpG sites of the ABCG1 gene. A significant linear trend was found between dietary intake of the methyl donor nutrient choline and CpG_19.20 methylation of the ABCG1 gene (β = -0.037, P = 0.033). Additionally, a significant association was observed between CpG_19.20 methylation and the risk of stroke (OR 2.325, 95% CI 1.210-4.466). Mediation analysis revealed that choline intake indirectly influenced stroke occurrence through its effect on CpG_19.20 methylation levels in the ABCG1 gene (β = -0.015, SE = 0.013, 95% CI = [-0.053, -0.001]). We found that DNA methylation at specific CpG sites of the peripheral blood ABCG1 gene mediates the association between dietary methyl donor nutrient intake and stroke risk in an adult population from Northwest China. New insights are provided on the prevention and treatment of stroke., Competing Interests: Author Declarations None, (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Abstract: Objective: In this study, we examine the association of single nucleotide polymorphisms (SNPs) of the human ATP binding cassette transporter G1 (ABCG1) gene with atherosclerotic coronary artery disease (CAD) in a Chinese Han population. Methods: 1021 patients with CAD and 1013 unaffected control subjects were enrolled. PCR-based ligation detection reaction (PCR-LDR) method was used to genotype four SNPs of ABCG1, three (rs2234714, rs2234715 and rs57137919) in the promoter region and one (rs1044317) in the 3′-untranslated region (UTR). Results: The human ABCG1 −367G>A polymorphism (rs57137919) showed a significantly decreased risk for CAD and myocardial infarction (MI) in a dominant model (adjusted OR=0.73, p =0.033 for CAD, and adjusted OR=0.65, p =0.014 for MI, respectively). The rs57137919 also showed an association with angiographic severity of CAD (multi-vessel vs. single-vessel CAD, adjusted OR=0.40, p =0.005). The findings were further supported by luciferase reporter assay, in which the polymorphism impaired reporter gene expression. The ABCG1 −768G>A polymorphism (rs2234714) showed an association with CAD in a recessive model (adjusted OR=0.64, p =0.015), but did not demonstrate a functional influence on reporter gene expression in the luciferase reporter assay. Conclusions: The SNP rs57137919 in the ABCG1 promoter region is functionally associated with a reduced risk of CAD in a Chinese Han population. [Copyright &y& Elsevier]

Background: Schizophrenia (SCZ) is a complex, heritable, and devastating psychiatric disorder. Mutations in the members of ABC transporters have been associated with psychiatric illnesses., Aims: In this study, we investigated whether 9 SNPs in ABCB1 (rs6946119, rs28401781, rs4148739, and rs3747802), ABCB6 (rs1109866, rs1109867, rs3731885, and rs3755047), and ABCG1 (rs182694) contribute to the risk of SCZ in a Han Chinese population., Methods: We conducted a case-control study in a Han Chinese population, involving 1,034 SCZ patients and 1,034 unrelated healthy controls to genotype 9 SNPs., Results: The analysis demonstrated that rs182694 of ABCG1 was significantly different between SCZ patients and controls as to allele (rs182694: p = 0.0070, χ2 = 7.27) and genotype frequencies (rs182694: p = 0.0013, χ2 = 13.35)., Conclusions: Our findings support an association between ABCG1 polymorphism and SCZ in a Han Chinese population., (© 2019 S. Karger AG, Basel.)

Background: The adenosine triphosphate (ATP)-binding cassette transporter G1 (ABCG1), a member of the superfamily of ATP-binding cassette transporters, is involved in the transport of cholesterol and phospholipids in macrophages. As such, ABCG1 plays a crucial role in the development of atherosclerosis in humans. In this study, we investigate the association between ABCG1 polymorphisms and the risk of developing ischemic stroke in a Chinese Han population., Methods: This case-control study included 389 ischemic stroke patients and 380 healthy subjects. ABCG1 rs1378577 and rs57137919 polymorphisms were analyzed by a polymerase chain reaction-ligation detection reaction., Results: We found that the genotypic distribution and allelic frequency of these polymorphisms were similar in patients and controls. In a subgroup with hypertriglyceridemia (144 patients and 115 controls), the frequency of rs1378577 GG genotype and G allele as well as rs57137919 AA genotype was lower in the patient group compared with that in the control group (P = .018, P = .035, and P = .023, respectively). Logistic regression analysis revealed a reduced risk of ischemic stroke in a recessive model for both rs1378577 and rs57137919. Subtype analyses demonstrated that rs1378577 TG and GG genotypes and the G allele were associated with reduced risk of atherothrombotic stroke (P = .030, P = .006, and P = .004, respectively), even after adjusting for confounding factors in a dominant model., Conclusions: Data from the present study demonstrate that ABCG1 polymorphisms are associated with reduced risk of developing ischemic stroke in hypertriglyceridemic population and atherothrombotic stroke in this cohort of Chinese Han population., (Copyright © 2015 National Stroke Association. Published by Elsevier Inc. All rights reserved.)