Role of ABCA1 in Cardiovascular Disease

Wang, Jing; Xiao, Qianqian; Wang, Luyun; Wang, Yan; Wang, Daowen; Ding, Hu

doi:10.3390/jpm12061010

Cited by 30 publications

(22 citation statements)

References 259 publications

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“…PCSK9 has been reported to inhibit the LDL receptor, resulting in lower cholesterol uptake by the liver and subsequent higher cholesterol concentrations in the circulation [ 38 ]. Intestinal ABCA1 promotes the efflux of free cholesterol from cells to HDL, which contributes to reverse cholesterol transport [ 39 ]. Based on our data, NR supplementation resulted in the lower mRNA expression of hepatic PCSK9 and higher mRNA expression of intestinal ABCA1 in ApoE -/- mice fed with HFD than mice without supplementation.…”

Section: Discussionmentioning

confidence: 99%

Supplementation with Natto and Red Yeast Rice Alters Gene Expressions in Cholesterol Metabolism Pathways in ApoE-/- Mice with Concurrent Changes in Gut Microbiota

Zhou

Liu

et al. 2023

Nutrients

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We aimed to examine the effect of natto and red yeast rice (NR) supplementation on lipid and lipoprotein profiles, gene expressions of cholesterol metabolism, and the composition of gut microbiota in ApoE−/− mice. Forty-one male ApoE−/− mice aged 7–8 wks old were randomly fed a control diet (CD), CD + NR (oral gavage at 0.3 g/kg BW/day), high-fat and high-cholesterol diet (HFD), or HFD + NR for 12 wks. Fasting blood samples, liver and intestine tissues and fecal samples were collected at week 12. Biochemical parameters, gene expressions in cholesterol metabolism and gut microbiota composition and diversity were measured using standard methods. NR supplementation had no significant effect on lipid and lipoprotein profiles. Compared with the HFD group, HFD + NR resulted in higher mRNA expressions of HMGCR and CYP7A1 (both P-NR < 0.05) and ABCA1 (P-diet*NR = 0.0134, P-NR = 0.0407), lower mRNA expression of PCSK9 (P-diet*NR = 0.0002), lower fasting glucose concentrations (P-diet*NR = 0.0011), and lower relative abundance of genera Bacteroides and Lactococcus (both P-NR < 0.01) and Coriobacteriaceae_UCG-002 (P-diet*NR = 0.0007). The relative abundance of Lactococcus was inversely correlated with HMGCR and CYP7A1, and the relative abundance of Coriobacteriaceae_UCG-002 was positively correlated with PCSK9 and inversely correlated with ABCA1 (all p < 0.05). These findings suggest that NR supplementation may regulate gene expressions in cholesterol metabolism via changes in the gut microbiota in HFD-fed ApoE−/− mice.

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Section: Discussionmentioning

confidence: 99%

Supplementation with Natto and Red Yeast Rice Alters Gene Expressions in Cholesterol Metabolism Pathways in ApoE-/- Mice with Concurrent Changes in Gut Microbiota

Zhou

Liu

et al. 2023

Nutrients

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“…We report the case of a patient referred to our clinic presenting features typical of Tangier disease with a likely pathogenic ABCA1 variant, c.4799A>G, identified for the first time as homozygous. Several types of variants in ABCA1 have been identified, with missense and frameshift variants being the most often described [ 32 ]. In ClinVar, there are 37 likely pathogenic/pathogenic variants in ABCA1, of which 14 are associated with TD.…”

Section: Discussionmentioning

confidence: 99%

Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

Gouveia

Fernandez-Crespo

Lázare-Iglesias

et al. 2023

JCM

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Tangier disease (TD) is a rare autosomal recessive disorder caused by a variant in the ABCA1 gene, characterized by significantly reduced levels of plasma high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-I). TD typically leads to accumulation of cholesterol in the peripheral tissues and early coronary disease but with highly variable clinical expression. Herein, we describe a case study of a 59-year-old male patient with features typical of TD, in whom a likely pathogenic variant in the ABCA1 gene was identified by whole-exome sequencing (WES), identified for the first time as homozygous (NM_005502.4: c.4799A>G (p. His1600Arg)). In silico analysis including MutationTaster and DANN score were used to predict the pathogenicity of the variant and a protein model generated by SWISS-MODEL was built to determine how the homozygous variant detected in our patient may change the protein structure and impact on its function. This case study describes a homozygous variant of the ABCA1 gene, which is responsible for a severe form of TD and underlines the importance of using bioinformatics and genomics for linking genotype to phenotype and better understanding and accounting for the functional impact of genetic variations.

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“…PCSK9 is a key protein in LDL metabolism and helps in the degradation of LDL receptors 26 . ABCA1 is an important protein for maintaining cholesterol homeostasis, promoting intracellular excess cholesterol and phospholipid efflux, and controlling the rate‐limiting step of the reverse cholesterol transport mechanism 27 . APOa1 is the major plasma HDL lipoprotein that exhibits several proven cardioprotective functions 28 .…”

Section: Discussionmentioning

confidence: 99%

Association of TOP2A and ADH1B with lipid levels and prognosis in patients with lung adenocarcinoma and squamous cell carcinoma

Yin,

Zhang,

et al. 2023

Clinical Respiratory J

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BackgroundAlthough lung adenocarcinoma (LUAD) and lung squamous cell carcinoma (LUSC) have different pathological and clinical features, they may share common driver genes. It was found that lipid levels can be used for early diagnosis of NSCLC; however, the relationship between driver genes and genes regulating lipid metabolism and their relationship with patient prognosis needs further investigation.MethodsGenes whose expression was up‐ or down‐regulated in both LUAD and LUSC were identified using the GEO database. Online tools like GEPIA 2, PrognoScan, UALCAN, and TIMER2.0 were used to investigate the association of these gene expressions with the patient's prognosis and lipid regulatory genes. The association between clinical lipid levels and the risk of LUAD and LUSC was analyzed by using a multiple logistic regression model.ResultsTopoisomerase II alpha (TOP2A) and alcohol dehydrogenase 1B (ADH1B) were identified as the only genes up‐ and down‐regulated in both LUAD and LUSC. TOP2A and ADH1B expression levels significantly correlated with the patient's gender, age, individual cancer stage, histological subtype, nodal metastasis status, and TP53 mutation status. Additionally, only LUAD patients with higher TOP2A or lower ADH1B expressions displayed poor overall and relapse‐free survival rates. Moreover, TOP2A levels exhibited a negative correlation with adipose triglyceride lipase (ATGL) and ATP‐binding cassette transporter A1 (ABCA1) in both LUAD and LUSC. However, ADH1B showed inverse associations with the above‐mentioned genes when compared to TOP2A expressions in both LUAD and LUSC. Furthermore, elevated triglyceride (OR = 1.59; 95% CI = 1.01 to 2.49; P < 0.05) and total cholesterol (OR = 2.45; 95% CI = 1.08 to 5.57; P < 0.05) levels might increase the risk of LUAD.ConclusionsTOP2A and ADH1B can be used as diagnostic markers for LUAD and LUSC, but only as independent prognostic factors for LUAD, and may be involved in lipid metabolism in LUAD patients but not in LUSC. Thus, combining genetic diagnostics with lipid panel tests might be an effective method for an early diagnosis and improved prognosis of LUAD.

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Role of ABCA1 in Cardiovascular Disease

Cited by 30 publications

References 259 publications

Supplementation with Natto and Red Yeast Rice Alters Gene Expressions in Cholesterol Metabolism Pathways in ApoE-/- Mice with Concurrent Changes in Gut Microbiota

Supplementation with Natto and Red Yeast Rice Alters Gene Expressions in Cholesterol Metabolism Pathways in ApoE-/- Mice with Concurrent Changes in Gut Microbiota

Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

Association of TOP2A and ADH1B with lipid levels and prognosis in patients with lung adenocarcinoma and squamous cell carcinoma

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