Plant Sterols, Stanols, and Sitosterolemia

Ajagbe, Bridget O; Othman, Rgia A.; Myrie, Semone B.

doi:10.5740/jaoacint.sgeajagbe

Cited by 32 publications

(29 citation statements)

References 94 publications

(132 reference statements)

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“…Sitosterolaemia is a rare autosomal recessive disease characterized by phytosterol accumulation due to ABCG5 or ABCG8 gene mutations. Homozygosity for this condition is characterized by an abnormally high intestinal absorption of sterols, severe hypercholesterolemia, early atherosclerosis development and increased cardiovascular morbidity and mortality [59]. Conversely, heterozygous patients are asymptomatic and can tolerate the intake of sterols with diet, although the threshold above which the consumption of phytosterols may be harmful for these individuals has not yet been defined.…”

Section: Phytosterolsmentioning

confidence: 99%

Joint position statement on “Nutraceuticals for the treatment of hypercholesterolemia” of the Italian Society of Diabetology (SID) and of the Italian Society for the Study of Arteriosclerosis (SISA)

Pirro

Vetrani

Bianchi

et al. 2017

Nutrition, Metabolism and Cardiovascular Diseases

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Section: Phytosterolsmentioning

confidence: 99%

Joint position statement on “Nutraceuticals for the treatment of hypercholesterolemia” of the Italian Society of Diabetology (SID) and of the Italian Society for the Study of Arteriosclerosis (SISA)

Pirro

Vetrani

Bianchi

et al. 2017

Nutrition, Metabolism and Cardiovascular Diseases

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“…This rare disorder is characterized by impaired sterol elimination from enterocytes and hepatocytes leading to excessive intestinal absorption of cholesterol and phytosterols, as well as reduced secretion to bile. 3 Although autosomal recessive phytosterolaemia frequently involves hypercholesterolaemia, sometimes to the extreme, 3 this is not always the case and significant premature atherosclerosis has been documented in the absence of substantial hypercholesterolaemia. 3 , 4 …”

Section: Introductionmentioning

confidence: 99%

Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease

Helgadóttir

Þorleifsson

Alexandersson

et al. 2020

European Heart Journal

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Aims To explore whether variability in dietary cholesterol and phytosterol absorption impacts the risk of coronary artery disease (CAD) using as instruments sequence variants in the ABCG5/8 genes, key regulators of intestinal absorption of dietary sterols. Methods and results We examined the effects of ABCG5/8 variants on non-high-density lipoprotein (non-HDL) cholesterol (N up to 610 532) and phytosterol levels (N = 3039) and the risk of CAD in Iceland, Denmark, and the UK Biobank (105 490 cases and 844 025 controls). We used genetic scores for non-HDL cholesterol to determine whether ABCG5/8 variants confer greater risk of CAD than predicted by their effect on non-HDL cholesterol. We identified nine rare ABCG5/8 coding variants with substantial impact on non-HDL cholesterol. Carriers have elevated phytosterol levels and are at increased risk of CAD. Consistent with impact on ABCG5/8 transporter function in hepatocytes, eight rare ABCG5/8 variants associate with gallstones. A genetic score of ABCG5/8 variants predicting 1 mmol/L increase in non-HDL cholesterol associates with two-fold increase in CAD risk [odds ratio (OR) = 2.01, 95% confidence interval (CI) 1.75–2.31, P = 9.8 × 10−23] compared with a 54% increase in CAD risk (OR = 1.54, 95% CI 1.49–1.59, P = 1.1 × 10−154) associated with a score of other non-HDL cholesterol variants predicting the same increase in non-HDL cholesterol (P for difference in effects = 2.4 × 10−4). Conclusions Genetic variation in cholesterol absorption affects levels of circulating non-HDL cholesterol and risk of CAD. Our results indicate that both dietary cholesterol and phytosterols contribute directly to atherogenesis.

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“…Moreover, homozygous or compound heterozygous mutations in either ABCG5 or ABCG8 were observed in patients with sitosterolemia, an inborn error of metabolism. Sitosterolemia is a rare autosomal recessive lipoprotein metabolic disorder [ 38 , 39 ]. The mutations lead to a complete loss of function of ATP-binding cassette ( ABC ) heterodimer transporter G5-G8.…”

Section: Resultsmentioning

confidence: 99%

Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions

Suratanee

Plaimas

2018

PLoS ONE

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Protein-protein interactions integrated with disease-gene associations represent important information for revealing protein functions under disease conditions to improve the prevention, diagnosis, and treatment of complex diseases. Although several studies have attempted to identify disease-gene associations, the number of possible disease-gene associations is very small. High-throughput technologies have been established experimentally to identify the association between genes and diseases. However, these techniques are still quite expensive, time consuming, and even difficult to perform. Thus, based on currently available data and knowledge, computational methods have served as alternatives to provide more possible associations to increase our understanding of disease mechanisms. Here, a new network-based algorithm, namely, Disease-Gene Association (DGA), was developed to calculate the association score of a query gene to a new possible set of diseases. First, a large-scale protein interaction network was constructed, and the relationship between two interacting proteins was calculated with regard to the disease relationship. Novel plausible disease-gene pairs were identified and statistically scored by our algorithm using neighboring protein information. The results yielded high performance for disease-gene prediction, with an F-measure of 0.78 and an AUC of 0.86. To identify promising candidates of disease-gene associations, the association coverage of genes and diseases were calculated and used with the association score to perform gene and disease selection. Based on gene selection, we identified promising pairs that exhibited evidence related to several important diseases, e.g., inflammation, lipid metabolism, inborn errors, xanthomatosis, cerebellar ataxia, cognitive deterioration, malignant neoplasms of the skin and malignant tumors of the cervix. Focusing on disease selection, we identified target genes that were important to blistering skin diseases and muscular dystrophy. In summary, our developed algorithm is simple, efficiently identifies disease–gene associations in the protein-protein interaction network and provides additional knowledge regarding disease-gene associations. This method can be generalized to other association studies to further advance biomedical science.

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Plant Sterols, Stanols, and Sitosterolemia

Cited by 32 publications

References 94 publications

Joint position statement on “Nutraceuticals for the treatment of hypercholesterolemia” of the Italian Society of Diabetology (SID) and of the Italian Society for the Study of Arteriosclerosis (SISA)

Joint position statement on “Nutraceuticals for the treatment of hypercholesterolemia” of the Italian Society of Diabetology (SID) and of the Italian Society for the Study of Arteriosclerosis (SISA)

Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease

Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions

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